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15q11.2-q13.1CNV Type: Duplication


Largest CNV size: 5600000 bp

Statistics Box:
Number of Reports: 67



Summary Information

Duplications at the 15q11.2-q13.1 loci on the maternally-derived chromosome are among the most prevalent CNVs in autistic populations. The corresponding duplication on the paternal chromosome is thought to confer less risk towards ASD pathogenesis. Deletions in this region are responsible for Angelman syndrome (deletion on maternal chromosome 15) and Prader-Willi syndrome (deletion on paternal chromosome 15)

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spe...
Duplication
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
Deletion-Duplication
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia.
Duplication
De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with develop...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.
Duplication
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phe...
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Excess of rare, inherited truncating mutations in autism.
N/A
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Frequency and Complexity of De Novo Structural Mutation in Autism.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Duplication
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
NA
Deletion-Duplication
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
NA
Duplication
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Duplication
NA
Duplication
NA
Duplication
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
Duplication
NA
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion-Duplication
Infantile spasms are associated with abnormal copy number variations.
Duplication
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Duplication
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Duplication
Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
NA
Duplication
NA
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Duplication
NA
Duplication
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Duplication
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
NA
Deletion-Duplication
Comorbidities associated with genetic abnormalities in children with intellectual disability
Deletion
NA
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
 Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
 584
 Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
 N/A
 N/A
 4890352
 1
 0
 1
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases
 Unrelated patients with duplications within the 15q11-q13 region, seen in the genetic department of Robert DEBRE hospital (France) between 2000 and 2012
 30
 Most common features of this cohort: developmental delay (77%), speech delay (93%), learning disabilities (93%), behavioral disturbances (77%), autism/ASD (74%), epilepsy/seizures (40%), and minor facial dysmorphic features (40%).
 Range, 4 mos.-30 yrs. (mean 8.8; median 7)
 66.67% Male
 8269417
 0
 23
 23
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 5938661
 0
 1
 1
 brandler_16_ASD_discovery_cases
 ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
 71
 Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
 N/A
 N/A
 5872650
 0
 1
 1
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 5508100
 0
 1
 1
 burrage_12_PWS_discovery_cases
 5-month-old girl with complex maternal uniparental trisomy for the Prader-Willi syndrome (PWS) critical region due to de novo interstitial 15q11-q13 duplication present in one of the maternal homologs
 1
 Case presents with a Prader-Willi syndrome (PWS) phenotype (neonatal hypotonia and feeding difficulties)
 5 mos.
 Female
 6994383
 0
 1
 1
 calderoni_20_ASD_discovery_cases
  NA NA
 Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
 90
 Clinical diagnosis of ASD based on DSM-5 criteria
 Range, 21 mos.-17 yrs.
 Female
 4855761
 0
 2
 2
 castronovo_14_ASD/DD/EP_discovery_cases
 Third-born child of healthy, non-consanguineous parents with two healthy older brothers presenting with a complex de novo chromosomal rearrangement at 15q11-q14
 1
 Case diagnosed with autism (formal evaluation using ADOS), severe developmental delay, and epilepsy (successfully treated with Depakine)
 3 yrs. 9 mos.
 Male
 6800000
 0
 2
 2
 ceylan_18_DD/ID_discovery_cases
  NA NA
 Patients examined at the department of genetics between May 2016 and April 2017
 124
 Global developmental delay/intellectual disability (DD/ID) and/or congenital anomalies
 Range, 15 days-17 years
 58.87% Male
 7500000
 0
 1
 1
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 5381574
 1
 2
 3
 chen_17_ASD_discovery_cases
 Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
 335
 All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
 Mean age, 9.4 4.0 years
 89.25% Male
 4919000
 0
 2
 2
 chen_21_ASD/DD/ID_discovery_cases
 Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
 61
 Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
 Range, 3-18 yrs. (median, 6 yrs.)
 60.7% Male
 4962265
 1
 0
 1
 chong_14_DD/ID/ASD/MCA_discovery_cases
 Patients referred to clinical genetics service and recruited for CMA application study
 105
 Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
 N/A
 N/A
 4950000
 1
 0
 1
 depienne_09_ASD_discovery_cases
 Patients from 430 families (95 mulitplex, 335 sporadic) recruited by Paris Autism Research international Subpair (PARIS) at centers in Europe and U.S.
 522
 472 cases diagnosed with autism, 26 with Asperger syndrome, & 24 for PDD-NOS. 358 cases with mental retardation, 261 with limited or no language, 66 with history of epilepsy.
 Mean of 11 7.5 yrs (range 2.5-43)
 75.3% Male
 5600000
 1
 1
 2
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 4825760
 1
 1
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 7397333
 0
 6
 6
 fan_19_ASD_discovery_cases
 Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
 401
 Cases diagnosed with ASD (DSM-5, ADOS, CARS)
 Range, 1 year 5 months-17 years
 83.54% Male
 5790000
 0
 3
 3
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 5988224
 0
 1
 1
 fu_21_ASD/DD/EP_discovery_cases
  NA NA
 6-year-old male with a de novo 15q11.2-q13.1 duplication admitted to the Department of Pediatrics of the Affiliated Hospital of Inner Mongolia Medical University in July 2020.
 1
 Case had a clinical diagnosis of autism spectrum disorder (Autism Behavior Checklist/Autism Scale Assessment Report score of 56 points on Pediatric Cardiac Scale); case also presented with intellectual disability and epilepsy/seizures.
 6 yrs.
 Male
 4758147
 0
 1
 1
 ghasemi_firouzabadi_16_ASD_discovery_cases
 Sporadic Iranian ASD cases with no family history of ASD
 50
 Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features
 N/A
 N/A
 3000000
 1
 0
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 3730000
 60
 82
 142
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 8312769
 0
 2
 2
 girirajan_13a_DD_discovery_cases
 Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
 31518
 Developmental delay
 NA
 NA
 8312769
 0
 16
 16
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 5413687
 0
 2
 2
 glessner_09_ASD_discovery_cases
 Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
 859
 859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
 Range, 2-21
 81.8% Male
 5008627
 0
 8
 8
 glessner_09_ASD_replication_cases
 Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
 1336
 1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
 Mean, 9.2 5.3
 78.7% Male
 5008627
 0
 7
 7
 guo_17_ASD_discovery_cases
 ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
 546
 Diagnosis of ASD based on DSM-IV-TR criteria
 Mean, 5.065 years
 N/A
 7036910
 0
 4
 4
 han_21_ASD/SCZ/ID_discovery_cases
  NA NA
 Three siblings with a maternally-inherited interstitial 15q11.2-q13.1 duplication evaluated at the Department of Pediatric Neurology, Daejeon St. Mary's Hospital (Daejeon, Korea)
 3
 Two siblings were diagnosed with autism spectrum disorder (ASD), while a third was diagnosed with schizophrenia (SCZ); all three siblings also presented with intellectual disability (ID).
 Range, 11-15 yrs.
 33.33% Male
 5139191
 0
 3
 3
 husson_20_ASD_discovery_cases
 A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
 253
 Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
 N/A
 81.4% Male
 6381630
 0
 2
 2
 jacquemont_06_ASD_discovery_cases
 Patients diagnosed with syndromic autism selected by clinical geneticists or child psychiatricians of Necker-Enfants Malades Hospital in Paris, France (n=28) and from the PARIS study (n=1).
 29
 Patients diagnosed with syndromic autism. DSM-IV criteria met for autism, PDD-NOS, or Asperger syndrome.
 NA
 58.62% Male
 4600000
 0
 1
 1
 jiao_19_EP/DD/ID_discovery_cases
 Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
 220
 Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
 Range, 1 mo.- 14 yrs.
 60.45% Male
 5440000
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 7792853
 40
 20
 60
 kim_18_DD/ID_discovery_cases
  NA NA
 Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
 50
 All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
 Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
 52.0% Male
 5300000
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 6034745
 N/A
 N/A
 3
 kushima_18_ASD_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 1108
 Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
 Median age, 19 years
 78.0% Male
 5480613
 0
 1
 1
 kushima_18_SCZ_discovery_cases
 Individuals predominantly recruited from the middle of Honshu Island (Japan)
 2458
 Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
 Median age, 44 years
 55.0% Male
 5616151
 0
 2
 2
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 7400000
 0
 12
 12
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 5088776
 0
 1
 1
 liao_12_SCZ_discovery_cases
 Index patients from families with multiple members diagnosed with schizophrenia or schizoaffective disorder
 60
 Structured clinical interview for DSM-IV used for psychiatric diagnosis of schizophrenia or schizoaffective disorder.
 NA
 NA
 5000000
 0
 1
 1
 mahjani_21_ASD_discovery_cases
 Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
 996
 Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
 Average age at diagnosis, 8.2 yrs.
 70% Male
 5838361
 2
 2
 4
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 4800000
 0
 1
 1
 marini_13_ID/EP_discovery_cases
 Affected individuals from a family segregating a paternally-transmitted 15q11-q13 duplication
 4
 Three individuals with epilepsy (proband, paternal uncle, and paternal grandfather); one individual with moderate intellectual disability (proband; assessed using WISC-R); one individual with borderline cognitive functions (proband's older brother)
 Range, 14-74 yrs.
 75% Male
 5900000
 0
 4
 4
 napoli_17_ASD_discovery_cases
 Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
 133
 Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
 Mean, 6.7 3.0 years
 84.96% Male
 4800000
 0
 1
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 4480000
 0
 2
 2
 ohashi_21_ASD_discovery_cases
 Patients diagnosed with ASD recruited from August 2015 to December 2017 in Nagoya City University Hospital (Nagoya, Japan)
 48
 Cases diagnosed with ASD according to DSM-5 criteria and evaluated using CARS-Tokyo version
 Median age at time of genetic analysis, 9.8 years (IQR 6.0-12.9)
 60.41% Male
 4872545
 0
 1
 1
 oikonomakis_16_ASD_discovery_cases
 ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
 195
 Cases assessed for ASD according to DSM-IV behavioral criteria
 Range, 1-38 yrs.
 64.61% Male
 5000000
 1
 0
 1
 pfundt_16_nonNDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1430
 Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
 N/A
 N/A
 6353193
 0
 1
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 5010000
 0
 1
 1
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 7397334
 0
 6
 6
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 4944897
 0
 1
 1
 riikonen_15_EP/DD/ASD_discovery_cases
 17-month-old female proband presenting with infantile spasms and developmental delay whose mother exhibited a similar phenotype and whose brother was diagnosed with autism and learning disabilities
 1
 Proband diagnosed with infantile spasms at age of 8 months
 17 mos.
 Female
 6200000
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 7386050
 1
 4
 5
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 5036562
 1
 0
 1
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 4863000
 2
 0
 2
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 4900000
 0
 1
 1
 shin_15_ASD/DD/ID_discovery_cases
 Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
 96
 34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
 N/A
 69.8% Male
 6244000
 1
 0
 1
 stobbe_13_ASD_discovery_cases
 Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
 36
 Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
 Range, 18-45 yrs. (mean 25.3 yrs.)
 77.78% Male
 5000000
 0
 1`
 1
 tammimies_15_ASD_discovery_cases
 Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
 258
 Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
 4.5 2.8 yrs.
 83.72% Male
 5145962
 0
 1
 1
 tan_14_ASD/DD_discovery_cases
 Participants of a study to identify genomic imbalance in patients with developmental delay/multiple congenital anomalies recruited from the genetics outpatient clinics of the KK Women's and Children's Hospital, Singapore.
 2
 Both cases with developmental delay; one case with additional diagnosis of ASD (diagnostic tools not reported)
 Range, 2 yrs.-5 yrs. 8 mos.
 50% Male
 4994696
 0
 1
 1
 tiwari_12_EP_discovery_cases
 Patients with infantile spasms assessed at Wayne State University (Detroit, MI, USA)
 13
 Epilepsy (infantile spasms). Additional phenotypic features: developmental delay, autistic features, hypotonia/ataxia, and dysmorphic features.
 NA
 38.46% Male
 4786035
 0
 1
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 7500000
 2
 1
 3
 urraca_13_ASD_discovery_cases
 Subjects with interstitial 15q11-q13 duplications recruited through the Dup15 Alliance
 14
 11 subjects with a diagnosis of autism or ASD, 1 subject with a diagnosis of ADHD
 Range, 3-16 yrs.
 57.14% Male
 6500000
 0
 10
 10
 urraca_16_ASD_discovery_cases
 Affected mother and two affected male offspring (seen at Le Bonheur Children's Hospital, Memphis, TN, USA) presenting with 15q11.2-q13.1 duplications
 3
 All three cases diagnosed with ASD (ADOS-2 and ADI-R)
 Range, 4-35 yrs.
 66.67% Male
 5000000
 0
 3
 3
 wang_18_TS_discovery_cases
 Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
 789
 Probands diagnosed with Tourette syndrome
 N/A
 80.57% Male
 6608188
 0
 1
 1
 wintle_10_ASD_discovery_cases
 Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
 34
 26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
 Mean, 25.97 18.93
 73.53% Male
 5307100
 1
 0
 1
 wolfe_16_ID_discovery_cases
 Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
 202
 All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
 Mean age, 37 yrs. (range, 18-78 yrs.)
 63% Male
 4876043
 1
 1
 2
 xu_16_ASD/DD/ID_discovery_cases
 Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
 115
 66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
 Range, 18 months-15.1 years (mean age, 5.7 years)
 72.17% Male
 6600000
 1
 1
 2
 yang_13_DD/ID_discovery_cases
 Two patients enrolled in a large study of genomic aberrations in patients with developmental delays and intellectual disabilities at the Children's Hospital of Chongqing Medical University, Chongqing, China.
 2
 Developmental delay/intellectual disability (DD/ID) and behavioral problems
 Range, 5-9 yrs.
 Male
 8000000
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 5548005
 0
 1
 1
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 6158310
 0
 6
 6

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 chen_17_ASD_discovery_controls1
 Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
 Mean age, 68.1 10.1 years
 48.03% Male
 4919000
 0
 2
 2
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 0
 0
 0
 0
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 3730000
 0
 0
 0
 girirajan_13a_ASD_discovery_controls3
 Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
 8329
 Control
 NA
 NA
 0
 0
 0
 0
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 glessner_09_ASD_discovery_controls
 Controls
 1409
 Controls
 
 
 5008627
 0
 0
 0
 glessner_09_ASD_replication_controls
 Controls
 1110
 Controls
 
 
 5008627
 0
 0
 0
 guo_17_ASD_discovery_controls
 Control subjects screened for rare, large (>1 Mb) CNVs
 988
 No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
 Mean, 34.3 years
 N/A
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 4921299
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 kushima_18_ASD/SCZ_discovery_controls
 Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
 2095
 Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
 Median age, 37 years
 52.0% Male
 0
 0
 0
 0
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
  Saudi Arabia
 Array SNP
  Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
 HMM
 Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
 None
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases
  N/A
 FISH, MLPA, aCGH, solid phase hybridization
  Agilent 180K, Illumina Human Cyto SNP-12 V2-2
 ADM-2
 Agilent CGH Analytcs, Illumina GenomeStudio v2011.1, CNVPartition 3.1.6
 None
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 brandler_16_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq
 ForestSV
 gtCNV
 Solid phase hybridization (Illumina 2.5M)
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 burrage_12_PWS_discovery_cases
  NA
 aCGH
  BCM V8 OLIGO
 
 
 FISH, karyotype analysis, array SNP
 calderoni_20_ASD_discovery_cases
  Italy
 aCGH
  Agilent 8x60K
 
 
 qPCR
 castronovo_14_ASD/DD/EP_discovery_cases
  Italian
 aCGH
  Agilent 244K
 
 
 Microsatellite analysis, FISH
 ceylan_18_DD/ID_discovery_cases
  Turkish
 Array SNP
  Affymetrix CytoScan Optima
 
 ChAS v.3.1
 None
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 chen_21_ASD/DD/ID_discovery_cases
  Taiwan
 CMA
  CytoOne Array (Phalanx Biotech)
 CBS
 MATLAB v.R2009a
 None
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 depienne_09_ASD_discovery_cases
  89% Caucasian
 MLPA
  ABI 3730 Sequencer
 
 GeneMarker 1.70
 FISH
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 Yes
 fan_19_ASD_discovery_cases
  Chinese
 Array SNP
  Affymetrix CytoScan HD
 
 ChAS
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 fu_21_ASD/DD/EP_discovery_cases
  China
 aCGH
  Agilent SurePrint G3
 N/A
 Agilent Feature Extraction, Agilent Genomic Workbench
 MLPA
 ghasemi_firouzabadi_16_ASD_discovery_cases
  Iranian
 Karyotyping
  High resolution GTG banding
 
 
 MLPA
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 aCGH (NimbleGen 135K array)
 girirajan_13a_DD_discovery_cases
  NA
 N/A
  N/A
 
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 aCGH (Agilent hotspot 2x400K)
 glessner_09_ASD_discovery_cases
  European
 Solid phase hybridization
  HumanHap550 BeadChip
 PennCNV
 
 qPCR, MLPA, array SNP
 glessner_09_ASD_replication_cases
  European
 Solid phase hybridization
  HumanHap550 BeadChip
 PennCNV
 
 qPCR, MLPA, array SNP
 guo_17_ASD_discovery_cases
  Chinese Han
 Solid phase hybridization
  Illumina 370K or 660K BeadChip
 PennCNV
 
 qPCR
 han_21_ASD/SCZ/ID_discovery_cases
  Korea
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v.12.0.2.2, Agilent CytoGenomics v.4.0
 None
 husson_20_ASD_discovery_cases
  France
 aCGH, WES
  Agilent 180K, Illumina HiSeq4000
 
 CANOES
 WES, ddPCR, QMPSF, aCGH
 jacquemont_06_ASD_discovery_cases
  France
 aCGH
  BACs aCGH (1 Mb resolution array)
 
 
 PCR, FISH
 jiao_19_EP/DD/ID_discovery_cases
  China
 WGS
  Low-coverage whole genome sequencing
 
 Illumina BclToFastq
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kim_18_DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 kushima_18_ASD_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 kushima_18_SCZ_discovery_cases
  Japanese
 aCGH
  NimbleGen 720K, Agilent 400K
 FASST2
 Nexus Copy Number v.9.0
 N/A
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 qPCR
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 liao_12_SCZ_discovery_cases
  Han Chinese/Taiwan
 aCGH
  NimbleGen whole genome 385K CGH array
 
 
 qPCR, FISH
 mahjani_21_ASD_discovery_cases
  Sweden
 WES
  Infinium OmniExpress Exome
 PennCNV
 NA
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marini_13_ID/EP_discovery_cases
  Italy
 MLPA
  MRC-Holland kit P036-E1 and chr 15q11-q13 specific kit
 
 
 aCGH (Agilent 44B)
 napoli_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome 4x180K
 ADM-2
 Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
 RT-PCR
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 FISH
 ohashi_21_ASD_discovery_cases
  Japan
 aCGH
  Agilent SurePrint G3 Human CGH 4x160K
 
 Agilent CytoGenomics
 WES
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 pfundt_16_nonNDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 Array SNP (Affymetrix CytoScan HD)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 riikonen_15_EP/DD/ASD_discovery_cases
  Finland
 Solid phase hybridization
  Illumina HumanCytoSNP-12(v2.1)
 
 
 None reported
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 shin_15_ASD/DD/ID_discovery_cases
  Korean
 MLPA
  SALSA MLPA P245 Microdeletion Syndromes probemix
 
 GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
 Array SNP (Affymetrix CytoScan 750K)
 stobbe_13_ASD_discovery_cases
  N/A
 aCGH
  NimbleGen CGX-3v1.0
 ADM-1
 NimbleScan 2.5, DNA Analytics 4.0
 None
 tammimies_15_ASD_discovery_cases
  Canada
 aCGH, array SNP, solid phase hybridization
  One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
 QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
 Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
 None
 tan_14_ASD/DD_discovery_cases
  1 Malay, 1 Chinese
 aCGH
  Agilent 400K
 
 Agilent Feature Extraction v10.7.31, Agilent Genomic Workbench Lite (edition 6.0.130.24)
 qPCR
 tiwari_12_EP_discovery_cases
  NA
 Solid phase hybridization
  Illumina 610Quad
 SVS
 Illumina BeadStudio, SVS
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 urraca_13_ASD_discovery_cases
  10 Caucasian, 2 African-American, 1 Hispanic, 1 Pacific Islander
 aCGH, array SNP
  Signature Genomics SignatureChipOS array, Affymetrix 6.1
 
 
 None
 urraca_16_ASD_discovery_cases
  United States
 Array SNP, FISH
  Affymetrix 6.0
 
 
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 qPCR
 wintle_10_ASD_discovery_cases
  31 European, 2 East Asian, 1 African
 Array SNP, solid phase hybridization
  Affymetrix 6.0, Illumina Human 1M-duo
 PennCNV, Birdsuite, iPattern
 QuantiSNP, Affymetrix Genotyping Console
 Solid phase hybridization
 wolfe_16_ID_discovery_cases
  74% White British
 aCGH
  Nimblegen 135K
 
 
 qPCR, FISH, QF-PCR
 xu_16_ASD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP
  BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 Affymeytrix Genotyping Console v3.0.2
 FISH
 yang_13_DD/ID_discovery_cases
  Han Chinese
 Karyotyping, array SNP
  Affymetrix Cytoscan HD
 HMM
 Affymetrix GeneChip Command Console, Affymetrix ChAS
 FISH
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls3
  NA
  Array SNP
  N/A
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  glessner_09_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  HumanHap550 BeadChip
  PennCNV
 
 
  glessner_09_ASD_replication_controls
  Caucasian
  Solid phase hybridization
  HumanHap550 BeadChip
  PennCNV
 
 
  guo_17_ASD_discovery_controls
  Chinese Han
  Solid phase hybridization
  Illumina 610K BeadChip
  PennCNV
 
 
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG1161
 N/A
 N/A
 Developmental delay and epilepsy
 Developmental delay, epilepsy, obesity, and unstable gait (Angelman syndrome). Non-consanguineous parents.
 Developmental delay
 23391673
 28282025
  4890353
 GRCh38
 Deletion
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient1
 1.7 yrs.
 M
 Developmental delay
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay; age of sitting, N/A; age of walking, N/A. Motor and musculoskeletal evaluation: severe axial hypotonia. Behavioral/psychiatric evaluation: N/A. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: normal brain MRI. Other features: severe encephalopathy without convulsive seizure associated with pyramidal syndrome. Dysmorphic features: none reported. Growth parameters: head circumference of 44.5 cm (0.5 SD), weight of 8.410 kg (0.5 SD), and height of 67 cm (M) at age of 7 months. Family history: maternal age at birth, 22 yrs.; paternal age at birth, 38 yrs.
 
 BP1 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient10
 4.5 yrs.
 F
 Developmental delay
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, N/A; age of walking, 18 months. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: no disturbances reported. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: hypopigmented skin. Growth parameters: head circumference of 49 cm (-0.5 SD) and weight of 13.300 kg (-1 SD) at age of 4 years 2 months, height N/A. Family history: maternal age at birth, 27 yrs.; paternal age at birth, 54 yrs.
 
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient11
 5 yrs.
 M
 ASD, ID and epilepsy
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, 36 months. Language and communication evaluation: absent or very limited verbal communication. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism; no eye-to-eye contact, isolation, autoaggressivity. Epilepsy/seizures: yes (infantile spasms). EEG: abnormal. Brain imaging: abnormal brain MRI (frontal subdural hematoma with an excess of peri-cerebral fluid). Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 50 cm (-1 SD), weight of 16.100 kg (-1 SD), and height of 100 cm (-2 SD) at age of 5 years. Family history: maternal age at birth, 29 yrs.; paternal age at birth, 30 yrs.
 Intellectual disability, learning disability
 BP1 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient12
 2.6 yrs.
 M
 Developmental delay
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, 15 months; age of walking, 23 months. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no disturbances reported. Epilepsy/seizures: none reported. EEG: not performed yet. Brain imaging: abnormal brain MRI (mild myelination anomaly). Other features: none reported. Dysmorphic features: facial dysmorphism, hypopigmented skin. Growth parameters: head circumference of 46 cm (-2.5 SD), weight of 10.100 kg (-1.5 SD), and height of 83 cm (-1 SD) at age of 25 years. Family history: maternal age at birth, 31.5 yrs.; paternal age at birth, 39.5 yrs.
 
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient13
 14.5 yrs.
 F
 ASD and ID
 Genetics: chromosomal anomaly, invdup(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, 9 months; age of walking, 23 months. Language and communication evaluation: absent or very limited verbal communication. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism, sleep disturbance; no eye-to-eye contact, isolation, autoaggressivity. Epilepsy/seizures: none reported. EEG: abnormal. Brain imaging: normal brain MRI. Other features: precocious puberty (8 yrs.). Dysmorphic features: none reported. Growth parameters: head circumference of 55 cm (0.25 SD), weight of 53.500 kg (0.25 SD), and height of 149 cm (-1.5 SD) at age of 14.5 years. Family history: maternal age at birth, 30 yrs.; paternal age at birth, 31 yrs.
 Intellectual disability, learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient14
 19.5 yrs.
 M
 Developmental delay and epilepsy
 Genetics: chromosomal anomaly,idic(15). Developmental milestones: psychomotor delay; age of sitting, N/A; age of walking, N/A. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: no disturbances reported. Epilepsy/seizures: yes (recurrent atypical absences). EEG: abnormal. Brain imaging: normal brain MRI. Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference N/A, weight N/A, height N/A. Family history: maternal age at birth, N/A.; paternal age at birth, N/A.
 Learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient16
 5 yrs.
 M
 ASD
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay, speech delay; age of sitting, 9 months; age of walking, 24 months. Language and communication evaluation: no verbal communication. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism, no eye-to-eye contact, anxiety. Epilepsy/seizures: none reported. EEG: abnormal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter, temporal arachnoidal cyst). Other features: none reported. Dysmorphic features: hypopigmented skin. Growth parameters: head circumference of 57 cm (5 SD) and weight of 22.200 kg (3 SD) at age of 4.5 years, height N/A. Family history: maternal age at birth, 41.5 yrs.; paternal age at birth, N/A.
 Learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient17
 16 yrs.
 F
 Developmental delay and epilepsy
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: speech delay; age of sitting, 6 months; age of walking, 15 months. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: behavioral disturbances. Epilepsy/seizures: yes (generalized tonic-clonic seizures). EEG: abnormal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter). Other features: none reported. Dysmorphic features: facial dysmorphism. Growth parameters: short stature; head circumference of 56 cm (1.5 SD), weight of 50.900 kg (1 SD), and height of 136 cm (-3.25 SD) at age of 13 years. Family history: maternal age at birth, N/A; paternal age at birth, N/A.
 Learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient18
 8.5 yrs.
 F
 ASD
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: speech delay; age of sitting, N/A; age of walking, 11 months. Language and communication evaluation: no verbal communication. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism and other behavioral disturbances, no eye-to-eye contact, anxiety, gesture stereotypies. Epilepsy/seizures: none reported. EEG: abnormal. Brain imaging: normal brain MRI. Other features: precocious puberty (8 years). Dysmorphic features: none reported. Growth parameters: head circumference of 50 cm (-1.5 SD), weight of 21.7 kg (-0.5 SD), and height of 123 cm (M) at age of 8 years. Family history: maternal age at birth, 30 yrs.; paternal age at birth, 39 yrs.
 Learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient19
 13 yrs.
 M
 ASD and ID
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay, slight speech delay; age of sitting, N/A; age of walking, 20 months. Language and communication evaluation: slight speech delay with dysarthria, some difficulties in communication that improved with time. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism; anxiety, some difficulties with socialization that improved with time. Epilepsy/seizures: none reported. EEG: abnormal. Brain imaging: normal brain MRI. Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 55.5 cm (0.5 SD), weight of 46 kg (1 SD), and height of 165.5 cm (2.5 SD) at age of 13 years. Family history: maternal age at birth, 34.5 yrs.; paternal age at birth, 39 yrs.
 Mild intellectual disability, learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient2
 7 yrs.
 M
 ASD and ID
 Genetics: chromosomal anomaly, SMC 15 (supernumerary paternally derived marker arising from the 3:1 segregation of a t(6;15)9p24;q12)pat. Developmental milestones: psychomotor delay, speech delay; age of sitting, N/A; age of walking, 18 months. Language and communication evaluation: absent or very limited verbal communication. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism and other behavioral disturbances (auto-aggressivity, attention deficit, excessive eating, no eye-to-eye contact, isolation); sleep disturbance. Epilepsy/seizures: none reported. EEG: abnormal. Brain imaging: normal brain MRI. Other features:. Dysmorphic features: facial dysmorphism (round face, deep set eyes, narrow palpebral fissures, epicanthus, upturned nose with broad nasal bridge). Growth parameters: head circumference of 52 cm (-0.25 SD), weight of 22.200 kg (M), and height of 120 cm (M) at age of 7 years. Family history: maternal age at birth, 37.5 yrs.; paternal age at birth, 37 yrs.
 Intellectual disability, learning disability
 19956119
 28646616
  8690498
 GRCh38
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient20
 11 yrs.
 M
 ID and epilepsy
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay, slight speech delay; age of sitting, 9 months; age of walking, 18 months. Language and communication evaluation: slight speech delay with dysarthria, some difficulties in communication that improved with time. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: sleep disturbance; anxiety. Epilepsy/seizures: yes (clinically recurrent absence seizures). EEG: abnormal. Brain imaging: normal brain MRI. Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 52 cm (-1.25 SD), weight of 30 kg (-0.5 SD), and height of 141 cm (M) at age of 11 years. Family history: maternal age at birth, 21.5 yrs.; paternal age at birth, 39 yrs.
 Mild intellectual disability, learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient21
 13 yrs.
 M
 ASD, ADHD, and ID
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: slight speech delay; age of sitting, N/A; age of walking, 12 months. Language and communication evaluation: slight speech delay with dysarthria, some difficulties in communication that improved with time. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism, ADHD, sleep disturbance, anxiety. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter). Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 56.5 cm (1.75 SD), weight of 37.5 kg (M), and height of 143.3 cm (-0.5 SD) at age of 12.5 years. Family history: maternal age at birth, N/A; paternal age at birth, 36 yrs.
 Mild intellectual disability, learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient22
 4.5 yrs.
 M
 Developmental delay and epilepsy
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay, speech delay; age of sitting, 9 months; age of walking, 16 months. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: behavioral disturbances. Epilepsy/seizures: yes (generalized tonic-clonic seizures). EEG: abnormal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter, thick corpus callosum). Other features: none reported. Dysmorphic features: hypopigmented skin. Growth parameters: head circumference of 49.5 cm (-1 SD) and weight of 16 kg (M) at age of 4 years, height N/A. Family history: maternal age at birth, 23 yrs.; paternal age at birth, 24 yrs; possible consaguineous.
 Learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient23
 3.5 yrs.
 M
 ID and epilepsy
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay, speech delay; sitting and walking not acquired. Language and communication evaluation: no verbal communication. Motor and musculoskeletal evaluation: hypotonia, scoliosis. Behavioral/psychiatric evaluation: behavioral disturbances (absence of eye-to-eye contact, anxiety). Epilepsy/seizures: yes (migrant partial seizure in infancy likely due to coexistence of de novo KCNT1 mutation). EEG: abnormal. Brain imaging: normal brain MRI. Other features: feeding difficulties requiring a gastrostomy. Dysmorphic features: none reported. Growth parameters: severe microcephaly; head circumference of 44 cm (-5 SD) and weight of 12 kg (-1.5 SD) at age of 2.5 years, height N/A. Family history: maternal age at birth, 35.5 yrs.; paternal age at birth, 22 yrs.; father and paternal grandfather with history of epilepsy.
 Intellectual disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient24
 6 yrs.
 M
 ASD
 Genetics: chromosomal anomaly, interstitial duplication of chromosome 15. Developmental milestones: psychomotor delay, speech delay; age of sitting, N/A; age of walking, 21 months. Language and communication evaluation: no verbal communication. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism, no eye-to-eye contact, anxiety. Epilepsy/seizures: none reported. EEG: not performed yet. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 51.5 cm, weight of 23 kg (1.5 SD), and height of 113 cm (M) at age of 6 years. Family history: maternal age at birth, 33.5 yrs.; paternal age at birth, 49 yrs.
 Learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient3
 4 yrs.
 F
 ASD
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, N/A; age of walking, 24 months. Language and communication evaluation: good verbal communication. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism and other behavioral disturbances, sociable. Epilepsy/seizures: none reported. EEG: abnormal. Brain imaging: normal brain MRI. Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 47.5 cm (-1.5 SD) at age of 3 years 10 months; weight and height difficult assess. Family history: maternal age at birth, 38.5 yrs.; paternal age at birth, 42 yrs.
 Learning disability; able to attend normal school with help of a specialized educator
 BP1 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient4
 4.5 yrs.
 M
 Developmental delay and epilepsy
 Genetics: chromosomal anomaly, invdup(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, 16 months; age of walking, 36 months. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: behavioral disturbances, sleep disturbance. Epilepsy/seizures: yes (infantile spasms). EEG: abnormal. Brain imaging: abnormal brain MRI (mild dilation of pericerebral spaces and presence of a small cyst in pars intermedia). Other features: none reported. Dysmorphic features: none reported. Growth parameters: head circumference of 50.5 cm (0.5 SD), weight of 17 kg (2 SD), and height of 96 cm (0.5 SD) at age of 3 years. Family history: maternal age at birth, 26.5 yrs.; paternal age at birth, N/A.
 Learning disability
 BP1 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient5
 10.5 yrs.
 F
 ASD, ID and epilepsy
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: mild psychomotor delay, speech delay; age of sitting, N/A; age of walking, 15 months. Language and communication evaluation: good verbal communication; speech difficulties. Motor and musculoskeletal evaluation: thin fingers. Behavioral/psychiatric evaluation: autism (Asperger syndrome), sleep disturbance, sociable. Epilepsy/seizures: yes (sporadic episode of absence and atonic crisis). EEG: normal. Brain imaging: not yet performed. Other features: precocious puberty (6 years). Dysmorphic features: facial dysmorphism. Growth parameters: head circumference of 52 cm (-1 SD), weight of 25.900 kg (-0.5 SD), and height of 133 cm (0.5 SD) at age of 9 years. Family history: maternal age at birth, 36.5 yrs.; paternal age at birth, 39 yrs.
 Intellectual disability, learning disability; able to attend normal school with help of a specialized educator
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient6
 14.5 yrs.
 M
 ASD
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, N/A; age of walking, 18 months. Language and communication evaluation: absent or very limited verbal communication. Motor and musculoskeletal evaluation: no anomalies reported. Behavioral/psychiatric evaluation: autism; no eye-to-eye contact, isolation, autoaggressivity. Epilepsy/seizures: none reported. EEG: normal. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: facial dysmorphism. Growth parameters: head circumference of 53 cm (-1.5 SD) and height of 158 cm (-0.75 SD) at age of 14.5 years, weight N/A. Family history: maternal age at birth, 34 yrs.; paternal age at birth, 41 yrs.
 Learning disability
 BP1 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient7
 37 yrs.
 F
 ASD and epilepsy
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, N/A; age of walking, 20 months. Lanaguge and communication evaluation: absent or very limited verbal communication. Motor and musculoskeletal evaluation: hypotonia, long thin fingers. Behavioral/psychiatric evaluation: autism; no eye-to-eye contact, isolation, autoaggressivity. Epilepsy/seizures: yes (generalized tonic-clonic seizures). EEG: not performed yet. Brain imaging: not performed yet. Other features: none reported. Dysmorphic features: facial dysmorphism. Growth parameters: short stature; head circumference of 53 cm (-1.5 SD), weight of 46 kg (-1.5 SD), and height of 142 cm (-3 SD) at age of 30 years. Family history: maternal age at birth, 29.5 yrs.; paternal age at birth, 22 yrs.
 Learning disability
 BP1 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient8
 5.5 yrs.
 M
 ASD, ID and epilepsy
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay. Language and communication evaluation: absent or very limited verbal communication. Motor and musculoskeletal evaluation: hypotonia, short extremities. Behavioral/psychiatric evaluation: autism and other behavioral disturbances; no eye-to-eye contact, isolation, autoaggressivity. Epilepsy/seizures: yes (epileptic encephalopathy, infantile spasms). EEG: abnormal. Brain imaging: abnormal brain MRI (subcortical and/or periventricular hyperdensity of white matter). Other features: micropenis, cryptorchidism. Dysmorphic features: facial dysmorphism, hypopigmented skin. Growth parameters: head circumference N/A, weight N/A, and height N/A) at age of 4 years. Family history: maternal age at birth, 35.5 yrs.; paternal age at birth, N/A.
 Intellectual disability, learning disability
 BP1 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient9
 5 yrs.
 F
 ASD and ID
 Genetics: chromosomal anomaly, idic(15). Developmental milestones: psychomotor delay, speech delay; age of sitting, 22 months; age of walking, >24 months. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: autism. Epilepsy/seizures: none reported. EEG: abnormal. Brain imaging: abnormal brain MRI (mild myelination anomaly). Other features: none reported. Dysmorphic features: facial dysmorphism, hypopigmented skin. Growth parameters: head circumference of 50 cm (M), weight of 17.100 kg (M), and height of 103 cm (-1 SD) at age of 5 years. Family history: maternal age at birth, 34.5 yrs.; paternal age at birth, 29 yrs.
 Intellectual disability, learning disability
 BP2 (precise start not provided)
 BP3 (precise end not provided)
  N/A
 Unknown
 Duplication
 No
  annunziata_21_ASD_discovery_cases-caseIB267
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD (ADOS comparative score 10, ADOS social affect domain score 1.8, ADOS restricted and repetitive behaviors domain score 2. Birth/neonatal history: normal pregnancy; born at term via eutocic delivery. EEG: normal. Brain imaging: normal. Dysmorphic features: peculiar facial characteristics. Growth parameters: height 25th %ile, weight 50th %ile, head circumference 90th %ile. Family history: positive for neuropsychiatric disorders (paternal and maternal families).
 Total IQ/GQ was not tested
 22301829
 28240489
  5938661
 GRCh38
 Duplication
 Yes
  brandler_16_ASD_discovery_cases_caseREACH000316
 N/A
 F
 ASD
 Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
 
 23319714
 28328854
  5009141
 GRCh38
 Duplication
 Yes
  brandler_18_ASD_discovery_cases-caseREACH000316
 N/A
 F
 ASD
 Case from REACH cohort
 
 23319714
 28092854
  4773141
 GRCh38
 Duplication
 Yes
  burrage_12_PWS_discovery_cases-case1
 5 mos.
 F
 Prader-Willi syndrome (PWS)
 Other genetic characteristics: complex maternal uniparental trisomy for the 15q11-q13 region (i.e. three maternal copies of the 15q11-q13 region and no parental 15q11-q13 contribution). Birth/neonatal history: born at 39 weeks gestation to 42-year-old Mexican female by repeat scheduled cesarean; pregnancy complicated by type A1 diabetes mellitus, advanced maternal age, and breech presentation; medications during pregnancy included antibiotics and prenatal vitamins; prenatal screens were normal; Apgar scores of 9 and 9 (at 1 min and 5 min); birth length 25th-50th %ile, birth weight <5th %ile, head circumference 10th %ile; infant transferred to neonatal ICU for hypotonia, poor feeding, and shallow respirations. Evaluation upon arrival to facility: severe truncal and extremity hypotonia with decreased spontaneous movements, poor suck. Evaluation at 5 months of age: tolerance of feeds by mouth but still required therapy for significant hypotonia. Brain imaging: head and spine MRI revealed diffuse mildly simplified gyral pattern and symmetric T2 hyperintense band like tracts in cervical spinal cord (believed to be unmyelinated axonal tracts). Dysmorphic features: low anterior hairline, narrow bifrontal diameter, hyperpigmented patch near left eyebrow, prominent metopic ridge, underfolded helices bilaterally, long hypotonic neck, almond-shaped eyes. Growth parameters (at 5 months of age): weight, length, and head circumference <1st %ile. Family history: first child from union, case has three healthy maternal half-siblings.
 
 22217336
 28921539
  6704204
 GRCh38
 Duplication
 Yes
  calderoni_20_ASD_discovery_cases-caseP18
  NA NA
 13 yrs.
 F
 ASD
 ADOS module 3 evaluation: Social Affect score 8, Restricted and Repetitive Behaviors score 5, Calibrated Severity Score 7. Language and communication evaluation: verbal.
 IQ > 70
 23424554
 28280314
  4855761
 GRCh38
 Duplication
 Yes
  calderoni_20_ASD_discovery_cases-caseP21
  NA NA
 5 yrs. 2 mos.
 F
 ASD
 Language and communication evaluation: verbal.
 IQ 70
 23424554
 28280314
  4855761
 GRCh38
 Duplication
 Yes
  castronovo_14_ASD/DD/EP_discovery_cases-case2
 3 yrs. 9 mos.
 M
 Autism, developmental delay, and epilepsy
 Case diagnosed with autism (formal evaluation using ADOS). Birth/neonatal history: pregnancy and delivery at term without complication; birth weight of 4120 g (90th-97th %ile), length of 52 cm (75th %ile), and OFC of 35 cm (50th %ile); Apgar scores of 9-10. Lanaguage and communication evaluation: absence of verbal communication. Motor and musculoskeletal evaluation: severe generalized hypotonia with ataxic gait and poor chewing. Behavioral/psychiatric evaluation: motor stereotypies of the lips, tongue, and hands; inconstant eye contact, use of mother's hands, escape into his own world, and stereotyped search for sound and tactile stimuli noted; not toilet trained. Epilepsy/seizures: "critical episodes", characterized by upper limb extension and deviation of gaze upwards lasting for periods of a few seconds, occurred at age of 6 months; epilepsy successfully treated with Depakine. EEG: sharp and wave anomalies in a disorganized context, which disappeared under therapy. Additional medical history: constipation, recurrent otitis reported by mother at age of 19 months. Dysmorphic features: mild craniofacial dysmorphism; arched eyebrows, hypertelorism, wide mouth. Growth parameters: weight of 16.4 kg (50th-85th %ile), height of 101 cm (~50th %ile), and OFC of 49.5 cm (15th-50th %ile) at age of 3 years 9 months. Family history: third-born child of healthy, non-consanguineous parents (at time of birth, mother was 39 and father was 35); two healthy older brothers; mother had two prior miscarriages, both in first trimester.
 Severe developmental delay
 23523934
 30081250
  6557317
 GRCh38
 Triplication
 Yes
  ceylan_18_DD/ID_discovery_cases-case12
  NA NA
 5 yrs.
 N/A
 ASD, developmental delay and intellectual disability
 Developmental milestones: developmental delay. Dysmorphic features: hypertelorism, depressed nasal bridge. Other findings: unilateral deafness, autism spectrum disorder.
 Intellectual disability
 23319714
 30003661
  6683948
 GRCh38
 Duplication
 No
  chaves_19_ASD/DD/ID_discovery_cases-case184
  NA NA
 N/A
 M
 ASD, ADHD, developmental delay, intellectual disability, and epilepsy
 Developmental delay, intellectual disability, epilepsy, autism and ADHD
 Intellectual disability
 23319714
 28578576
  5258863
 GRCh38
 Deletion
 No
  chaves_19_ASD/DD/ID_discovery_cases-case306
  NA NA
 N/A
 M
 Developmental delay
 Developmental delay
 
 23319714
 28701287
  5381574
 GRCh38
 Triplication
 No
  chen_17_ASD_discovery_cases-caseU-1067
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 4 (past score 10); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 14); Qualitative abnormalities in nonverbal communication, current score 2 (past score 8); Restricted, repetitive, and stereotyped patterns of behaviour, current score 7 (past score 9); Abnormality of development evident at or before 36 months, past score 4. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 28; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 5. Epilepsy: no history of epilepsy.
 Performance IQ 81, Verbal IQ 75, Full-scale IQ 75
 24537108
 28464134
  3927027
 GRCh38
 Duplication
 Yes
  chen_17_ASD_discovery_cases-caseU-1807
 N/A
 M
 ASD
 Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 8 (past score 25); Qualitative abnormalities in verbal and nonverbal communication, current score 9 (past score 20); Qualitative abnormalities in nonverbal communication, current score 2 (past score 11); Restricted, repetitive, and stereotyped patterns of behaviour, current score 10 (past score 11); Abnormality of development evident at or before 36 months, past score 4. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 117; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 22. Epilepsy: no history of epilepsy.
 Performance IQ 70, Verbal IQ 74, Full-scale IQ 69
 23396355
 28315658
  4919304
 GRCh38
 Duplication
 Yes
  chen_21_ASD/DD/ID_discovery_cases-case22
 NA
 NA
 ASD and developmental delay/intellectual disability
 Case diagnosed with ASD (based on DSM-V criteria) and presented with developmental delay/intellectual disability
 Developmental delay/intellectual disability
 23319714
 28281978
  4962265
 GRCh38
 Deletion
 No
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1052
 N/A
 M
 Developmental delay
 Moderate developmental delay. Family history: none reported.
 Moderate developmental delay
 23462105
 28290061
  4827957
 GRCh38
 Deletion
 Yes
  depienne_09_ASD_discovery_cases-patient2
 6
 M
 Autism
 Speech delay, no phrases; no epilepsy; frequent otitis, masication/swallowing diificulties, no dysmorphic features
 Moderate MR
 
 
  4600000
 Unknown
 Duplication
 Yes
  depienne_09_ASD_discovery_cases-patient3
 24
 M
 Autism
 No language; no epilepsy; sleep difficulties, delayed motor development, gait difficulties and inappropriate laughter during infancy; unilateral renal hypoplasia; strabismus, tongue protrusion, no dysmorphism; normal head circumference; normal brain CT, normal EEG
 Severe MR
 
 
  5600000
 Unknown
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300524
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 23454554
 28246078
  4791525
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300676
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 23454554
 28280314
  4825761
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case13050_593
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23394036
 28285213
  4891178
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case17035_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23319714
 28201619
  4881906
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case20069_1328001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23319714
 28290529
  4970816
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case20187_1464001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20346670
 28290529
  7943860
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case8117_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 23371803
 28299213
  4927411
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8630_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22011483
 28290529
  6279047
 GRCh38
 Duplication
 Yes
  fan_19_ASD_discovery_cases-caseASD050
 3 yrs. 11 mos.
 M
 ASD
 CARS score 42.5 (severe severity)
 
 23319714
 28300209
  4980496
 GRCh38
 Duplication
 No
  fan_19_ASD_discovery_cases-caseASD061
 2 yrs. 7 mos.
 M
 ASD
 CARS score 41 (severe severity)
 
 23319714
 28289099
  4969386
 GRCh38
 Duplication
 No
  fan_19_ASD_discovery_cases-caseASD317
 1 yr. 10 mos.
 M
 ASD
 CARS score 40.5 (severe severity)
 
 23319714
 28315518
  4995805
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0007317
 N/A
 F
 ASD
 
 
 23319714
 28439705
  5119992
 GRCh38
 Duplication
 No
  fu_21_ASD/DD/EP_discovery_cases-case1
  NA NA
 6 yrs.
 M
 ASD, developmental delay, and epilepsy
 Birth/neonatal history: postterm pregnancy (45+6 weeks gestation); birth weight 3000 grams; no history of asphyxia or hypoxia following birth, and no abnormalities observed during the neonatal period. Developmental milestones: able to sit at 8 months and walk at 17 months; capable of shouting "Mom" and "Dad" at 3 years; Developmental Quotient score of 49 on Pediatric Cardiac Scale. Language and communication evaluation: able to speak complete sentences but unable to communicate normally with people at 6 years. Behavioral/psychiatric evaluation: clinical diagnosis of autism spectrum disorder (Autism Behavior Checklist/Autism Scale Assessment Report score of 56 points on Pediatric Cardiac Scale). Epilepsy/seizures: convulsions during sleep with onset at 3 years (seizures manifested with loss of consciousness, head tilting back, eyes on the turn, cyanotic lips, foaming at the mouth, and stiff and shaking limbs and were accompanied by urinary incontinence, followed by crying and screaming). EEG: extensive/multifocal spike waves, slow spike waves, and multiple slow spike waves; nearly continuous state of sleeping discharge; partial comprehensive secondary attacks in the right frontal pole and frontal region during waking period. Brain imaging: normal. Family history: first birth and first child of his mother.
 Pediatric Cardiac Scale results were as follows: Fine movements, intelligence age of subscale was 31.5 and developmental quotient/index of subscale was 38; Adaptibility, intelligence age of subscale was 36 and developmental quotient/index of subscale was 43; Language, intelligence age of subscale was 37.5 and developmental quotient/index of subscale was 45; Social behaviors, intelligence age of subscale was 33 and developmental quotient/index of subscale was 40; Intelligence age 40.8.
 23523891
 28282037
  4758147
 GRCh38
 Duplication
 Yes
  ghasemi_firouzabadi_16_ASD_discovery_cases-p21
 11 yrs.
 F
 ASD
 Seizures, microcephaly, dysmorphic facial features
 Intellectual disability
 N/A
 N/A
  3000000
 Unknown
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case0447
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0448
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0449
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0450
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0451
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0452
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0453
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0454
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0455
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0456
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0457
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0458
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0459
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0460
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0461
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0462
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0463
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0464
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0465
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0466
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0467
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0468
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0469
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0470
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0471
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0472
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0473
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0474
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0475
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0476
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0477
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0478
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0479
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0480
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0481
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0482
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0483
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0484
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0485
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0486
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0487
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0488
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0489
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0490
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0491
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0492
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0493
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0494
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0495
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0496
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0497
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0498
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0499
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0500
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0501
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0502
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0503
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0504
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0505
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0506
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0507
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0508
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0509
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0510
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0511
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0512
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0513
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0514
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0515
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0516
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0517
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0518
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0519
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0520
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0521
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0522
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0523
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0524
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0525
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0526
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0527
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0528
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0529
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0530
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0531
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0532
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0533
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0534
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0535
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0536
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0537
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0538
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0539
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0540
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0541
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0542
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0543
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0544
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0545
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0546
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0547
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0548
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0549
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0550
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0551
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0552
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0553
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0554
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0555
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0556
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0557
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0558
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0559
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0560
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0561
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0562
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0563
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0564
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0565
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0566
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0567
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0568
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0569
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0570
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0571
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0572
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0573
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case0574
 NA
 NA
 Developmental delay
 NA
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case20500
 3 yrs.
 M
 Developmental delay
 Moderate motor and severe speech delays. Persistent hypotonia, periventricular porencephalic change, posterior thinning of corpus callosum. Dysmorphic features: light pigmentation, widow's peak, triangular face, high palate. Congenital anomalies: undescended testicle. Growth parameters: normal height, weight, and OFC. Family history: cousin with obsessive compulsive disorder (OCD).
 Developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case20880
 NA
 NA
 Developmental delay
 Failure to thrive
 NA
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case22848
 21 mos.
 M
 Developmental delay
 Global developmental delay, unspecified behavioral problems. Hypotonia. Dysmorphic features: frontal bossing, deep-set eyes, upslanting palpebral fissures, protruding ears, widened nasal bridge, bulbous nasal tip, small nares, micrognathia. Growth parameters: weight >99th %ile, height >99th %ile, OFC 98th %ile. Family history: father has ADHD and auditory processing disorder; mother has Kawasaki syndrome and heart aneurysm.
 Global developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case24781
 NA
 NA
 Developmental delay
 NA
 Developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case26098
 4 yrs. 3 mos.
 F
 Developmental delay
 Karyotype: trisomy 21. Nonverbal. Behavioral problems: autistic features, meets 6/12 DSM-IV criteria for ASD. Hypotonia. Visual impairment. Dysmorphic features: low-set ears, short and thick neck. Congenital anomalies: ventricular septal defect. Other features: gastroesophageal reflux disease (GERD), cataracts. Growth parameters: weight 3rd %ile, height <3rd %ile. Family history: two brothers with ASD and 15q duplication.
 Developmental delay; developmental quotient of 1 year at 3 years of age.
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case27397
 8 mos.
 F
 Microcephaly
 No developmental delay as of yet. Normal tone, nondysmorphic, family history not specified. Growth parameters: weight 25th-50th %ile, height >97th %ile, OFC -1.3 SD.
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case29163
 NA
 NA
 Developmental delay
 Dysmorphic features
 Developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case29221
 2 yrs. 1 mo.
 F
 Developmental delay
 Global developmental delay. Hypotonia, Normal MRI. Dysmorphic features: almond-shaped palpebral fissures, mild micrognathia, bitemporal narrowing. Other features: required G-tube. Growth parameters: weight 58th %ile, height 18th %ile, OFC -0.7 SD. Family history: mother had trachoesophageal fistula and duodenal atresia; father had undescended testicle.
 Global developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case33459
 NA
 NA
 ASD
 Autistic Spectrum Disorder (ASD)
 NA
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case34299
 NA
 NA
 Developmental delay
 Dysmorphic features, seizure disorder
 Developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case37514
 11 yrs.
 M
 Intellectual disability and ASD
 Global developmental delays. Behavioral problems: ASD, anxiety, ADHD, trichotillomania, Tourette syndrome. Normal tone. Nondysmorphic. Growth parameters: weight 10th-25th %ile, height 10th %ile, OFC +0.4 SD. Family history: not specified.
 Mild ID and global developmental delays
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case51967
 NA
 NA
 Developmental delay
 Delayed developmental milestones
 Developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case57860
 2 yrs. 8 mos.
 M
 Developmental delay
 Global developmental delay. Normal tone. Dysmorphic features: perauricular pit, frontal bossing, borderline low-set ears. Congenital anomalies: 2-3 toe syndactyly, mottled skin hypopigmentation. Growth parameters: weight 75th-90th %ile, height 50th-75th %ile, OFC -0.8 SD. Family history: mother has learning disability.
 Global developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Duplication (mosaic)
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case57872
 NA
 NA
 Developmental delay
 Hypotonia
 Developmental delay
 24573760
 28181259
  3607500
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-12007.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-14159.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 20604680
 28201259
  7596580
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase140
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase141
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase142
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase143
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase144
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase145
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase146
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase147
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase148
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase149
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase150
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase151
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase152
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase153
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase154
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13a_DD_discovery_cases-DDcase155
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 19967091
 28700940
  8733850
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-17209111199
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 23319714
 28307099
  4987386
 GRCh38
 Duplication
 Yes
  girirajan_13b_ASD_discovery_cases-60905104617
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 23430255
 28323855
  4893601
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-1101_003
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-1145_004
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-2630209236
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-4080547274
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-5074_004
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-AU03304
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-AU19704
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-C218603
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU023303
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU023304
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU074403
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU074404
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1135202
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1331303
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1607307
 NA
 
 ASD
 NA
 NA
 23403646
 28290120
  4886475
 GRCh38
 Duplication
 Yes
  guo_17_ASD_discovery_cases-caseM10117
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 23319714
 28300932
  4981219
 GRCh38
 Duplication
 Yes
  guo_17_ASD_discovery_cases-caseM16147
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 23319714
 28290120
  4970407
 GRCh38
 Duplication
 Yes
  guo_17_ASD_discovery_cases-caseM8145
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
 
 20924655
 28275360
  7350706
 GRCh38
 Triplication
 Yes
  han_21_ASD/SCZ/ID_discovery_cases-caseII-1
  NA NA
 15 yrs.
 F
 Schizophrenia and intellectual disability
 Birth/neonatal history: uneventful pregnancy. Developmental milestones: normal in childhood. Language and communication evaluation: impaired communication. Behavioral/psychiatric evaluation: cognitive changes, immaturity, and worsening social communication that affected her ability to function in school after entering middle school; gradual development of problem behaviors with attention deficit and hyperactivity; unpredictable agitation; bizarre posturing; hallucinations (seemed to see or hear things that did not exist); diagnosis of schizophrenia at 15 years. Family history: first child of non-consanguineous parents; her two siblings are affected.
 Mild intellectual disability (IQ estimated to be 65)
 23319714
 28458904
  5139191
 GRCh38
 Duplication
 No
  han_21_ASD/SCZ/ID_discovery_cases-caseII-2
  NA NA
 13 yrs.
 M
 ASD and intellectual disability
 Birth/neonatal history: uneventful pregnancy. Behavioral/psychiatric evaluation: not interested in other children; unusual finger movements near face and repetition of some words without intent to communicate; diagnosis of autism spectrum disorder at 6 years. Family history: second child of non-consanguineous parents; his two siblings are affected.
 Mild intellectual disability (IQ of 60 on Wechsler Intelligence Scale for Children Revised)
 23319714
 28458904
  5139191
 GRCh38
 Duplication
 No
  han_21_ASD/SCZ/ID_discovery_cases-caseII-3
  NA NA
 11 yrs.
 F
 ASD, developmental delay, and intellectual disability
 Birth/neonatal history: uneventful pregnancy. Developmental milestones: early development characterized by delays in fine motor, social-cognitive, and language milestones. Behavioral/psychiatric evaluation: aggressive behavior at 5 years; repetitive behaviors; diagnosis of autism spectrum disorder at 7 years. Family history: third child of non-consanguineous parents; her two siblings are affected.
 Intellectual disability (IQ estimated at 58)
 23319714
 28458904
  5139191
 GRCh38
 Duplication
 No
  husson_20_ASD_discovery_cases-case207
 9 yrs.
 M
 ASD
 Diagnosis of ASD
 
 23440875
 28322152
  4881278
 GRCh38
 Duplication
 Yes
  husson_20_ASD_discovery_cases-case405
 5 yrs.
 F
 ASD
 Diagnosis of ASD
 
 23440875
 29822504
  6381630
 GRCh38
 Duplication
 Yes
  jacquemont_06_ASD_discovery_cases-patient28
 25 yrs.
 F
 Autism
 Fulfilled DSM-IV criteria for autism. Delayed developmental milestones. Developed epilepsy with polymorphic episodes at 18 yrs. Normal growth parameters. Dysmorphic features: long thin face, anti-mongoloid palpebral fissures, gothic palate, dentomaxillar dysharmonia. Normal brain MRI.
 Mild mental retardation (MR)
 NA
 NA
  4600000
 Unknown
 Duplication
 Yes
  jiao_19_EP/DD/ID_discovery_cases-caseDD19000336
 3 yrs. 9 mos.
 Female
 DD and epilepsy/seizures
 Developmental milestones: global developmental delay, delayed speech and language development. Motor and musculoskeletal evaluation: motor deterioration. Epilepsy/seizures: seizures (febrile seizures). EEG: EEG abnormality.
 
 23319714
 28755366
  5435653
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000085
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000657
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28275167
  4812863
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000767
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28275167
  4955454
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000801
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28785371
  5465658
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000817
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000850
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28314256
  4902468
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000866
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000884
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28275167
  4812863
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001015
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28314256
  4994543
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001017
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28785371
  5465658
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001020
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001112
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001164
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001207
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28275167
  4955454
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001240
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28446314
  5126601
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001584
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23375083
 28197267
  4822185
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001599
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23375083
 28272443
  4897361
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001662
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28681287
  5361574
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001792
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23337069
 28272443
  4935375
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001849
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23320410
 28567337
  5246928
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001864
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20046515
 28385894
  8339380
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001888
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28197267
  4877554
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001921
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28190742
  4871029
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001985
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28190742
  4871029
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002198
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23398620
 28190742
  4792123
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002202
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28190742
  4871029
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002297
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23398620
 28190742
  4792123
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002526
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28190742
  4728438
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002569
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23537429
 28269468
  4732040
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002730
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23450287
 28446314
  4996028
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002739
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23398620
 28446314
  5047695
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003900
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411589
 28275308
  4863720
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003990
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28446455
  5126742
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004024
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411589
 28446455
  5034867
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004066
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23494211
 28281294
  4787084
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004108
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28785371
  5465658
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004132
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411589
 28275308
  4863720
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004267
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004334
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28446314
  5034526
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004434
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28695093
  5375380
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004440
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28785371
  5465658
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004458
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28190742
  4728438
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004481
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28275167
  4812863
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004488
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411589
 28275308
  4863720
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004587
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28785371
  5465658
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004623
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28275167
  4812863
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004738
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28275167
  4812863
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004845
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28275167
  4863379
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004931
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28275308
  4955595
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005035
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28695093
  5375380
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005164
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 22030646
 28694952
  6664307
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005203
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 25161216
 28190742
  3029527
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005225
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28840750
  5521037
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005229
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23411789
 28281294
  4869506
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005250
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23537429
 28275167
  4737739
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005285
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462305
 28275167
  4812863
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005329
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28275167
  4955454
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005339
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 24780911
 29668996
  4888086
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005345
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23319714
 28275308
  4955595
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005347
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 23462105
 28275308
  4813204
 GRCh38
 Deletion
 Yes
  kim_18_DD/ID_discovery_cases-case11
  NA NA
 2 yrs.
 M
 Developmental delay and epilepsy
 Dysmorphic features, epilepsy, failure to thrive, microcephaly (Angelman syndrome)
 
 23319714
 28295199
  4975486
 GRCh38
 Deletion
 No
  krumm_15_ASD_discovery_cases-case12007.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 23319714
 28280287
  4960574
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14550.p1
 N/A
 N/A
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: N/A
 
 23319714
 28527780
  5208067
 GRCh38
 N/A
 Yes
  krumm_15_ASD_discovery_cases-case14687.p1
 N/A
 N/A
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: N/A
 
 23319714
 28202614
  4882901
 GRCh38
 N/A
 Yes
  kushima_18_ASD_discovery_cases-caseASD0253
 23 yrs.
 M
 ASD, ADHD, OCD, ID
 Developmental milestones: motor delay. Behavioral/psychiatric evaluation: ADHD, OCD, psychiatric symptoms (hallucinations). Congenital and developmental phenotypes: low birth weight, preterm birth. Family history: negative.
 Severe intellectual disability
 23319712
 28800324
  5480613
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ1259
 40 yrs.
 F
 Schizophrenia, ID
 Behavioral/psychiatric evaluation: onset of schizophrenia at 29 years of age (core symptoms include delusions, disorganized thoughts, irritability, emotional outbursts). Brain imaging: ventricular enlargement on brain CT. Physical comorbidities: obesity. Congenital and developmental phenotypes: low birth weight. Family history: positive for intellectual disability (ID).
 Intellectual disability (IQ < 70)
 23319712
 28684313
  5364602
 GRCh38
 Duplication
 N/A
  kushima_18_SCZ_discovery_cases-caseSCZ2280
 48 yrs.
 M
 Schizophrenia
 No additional clinical information reported for this individual. Family history: unknown.
 
 23157975
 28774125
  5616151
 GRCh38
 Duplication
 N/A
  leppa_16_ASD_discovery_cases-AU006503
 N/A
 F
 ASD
 
 
 20889671
 28289854
  7400184
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU006504
 N/A
 M
 ASD
 
 
 20889671
 28289854
  7400184
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU010604
 N/A
 M
 ASD
 
 
 23319714
 28289854
  4970141
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU023303
 N/A
 F
 ASD
 Mother not available for testing
 
 23354853
 28654854
  5300002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU023304
 N/A
 M
 ASD
 Mother not available for testing
 
 23354853
 28654854
  5300002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1042303
 N/A
 N/A
 ASD
 
 
 23442067
 29034883
  5592817
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU1135202
 N/A
 N/A
 ASD
 
 
 23403645
 28717954
  5314310
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU1331302
 N/A
 M
 ASD
 
 
 20889671
 28289854
  7400184
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU1331303
 N/A
 M
 ASD
 
 
 20889671
 28289854
  7400184
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU3371301
 N/A
 M
 ASD
 SRS total score N/A, Vineland 79
 
 23378853
 28124854
  4746002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU3371305
 N/A
 M
 ASD
 
 
 23378853
 28124854
  4746002
 GRCh38
 Duplication
 No
  leppa_16_ASD_discovery_cases-AU4007301
 N/A
 N/A
 ASD
 SRS total score 78
 Raven's non-verbal IQ unmeasurable, PPVT score 47
 23379001
 28545588
  5166588
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12007.p1
 NA
 F
 ASD
 NA
 NA
 23427898
 28394520
  4966623
 GRCh38
 Duplication
 Yes
  liao_12_SCZ_discovery_cases-case1
 18 yrs.
 F
 Schizoaffective disorder
 Proband presented psychotic symptoms at age of 18 yrs (symptoms included elated mood, agitation, irritability, auditory hallucination, irrelevant speech, self-talking, poor impulse control, and delusions of being controlled); subsequently diagnosed with schizoaffective disorder. Proband responded well to antipsychotic treatment, but she did not comply well with taking medication, and so was hospitalized due to relapses. Family history: mother carrying 15q11.2-q13.1 duplication diagnosed with chronic schizophrenia and was under long-term antipsychotic treatment; other family members who did not carry 15q11.2-q13.1 duplication were normal and had no diagnosis of psychiatric disorders.
 
 23403412
 28281259
  4877848
 GRCh38
 Duplication
 Yes
  mahjani_21_ASD_discovery_cases-case155
 NA
 F
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 23411798
 28299213
  4887416
 GRCh38
 Deletion
 No
  mahjani_21_ASD_discovery_cases-case156
 NA
 F
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 23411798
 28299213
  4887416
 GRCh38
 Deletion
 No
  mahjani_21_ASD_discovery_cases-case157
 NA
 F
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 23319713
 29158073
  5838361
 GRCh38
 Duplication
 No
  mahjani_21_ASD_discovery_cases-case64
 NA
 M
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 23319713
 28286974
  4967262
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown38
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 23454554
 28280314
  4825761
 GRCh38
 Duplication
 No
  marini_13_ID/EP_discovery_cases-case1
 14 yrs. 4 mos.
 F
 ID and epilepsy
 Birth/neonatal history: born at 37 weeks of gestation; slow fetal growth noted at 8th month; birth weight, length, and OFC all <3rd %ile. Developmental milestones: apparently normal motor development; delayed speech. Langauge and communication evaluation: fluent spoken language, normal in phonological and morphological levels (at age of 16 years). Motor and musculoskeletal evaluation: clumsiness, poor coordination of hand movements. Epilepsy/seizures: yes (tonic-clonic seizures successfully treated with carbamazepine). Behavioral/psychiatric evaluation: repetitive language, mood lability, phobias. Brain imaging: normal cranial MRI. Dysmorphic features: high anterior hairline, prominent forehead, prominent nose with short philtrum, thin upper lip vermillion, high palate, bilateral hallux valgus, small concave nails, dorsal angioma, abdominal red striae, truncal obesity. Family history: older brother (marini_13_ID/EP_discovery_cases-case2) with borderline cognitive functions , poor social skills, and some obsessive/compulsive behaviors (also carries paternally-inherited 15q11.2-q13.1 duplication); clinically unaffected father; paternal uncle (marini_13_ID/EP_discovery_cases-case3) with epilepsy (carries 15q11.2-q13.1 duplication); paternal grandfather (marini_13_ID/EP_discovery_cases-case4) with epilepsy (carries 15q11.2-q13.1 duplication); no history of intellectual disability, developmental or behavioral problems, or epilepsy in maternal branch of the family.
 Moderate ID; full-scale IQ of 42 on WISC-R (verbal IQ of 47, performance IQ 46); learning disabilities
 23319714
 28280255
  4960542
 GRCh38
 Duplication
 Yes
  marini_13_ID/EP_discovery_cases-case2
 30 yrs.
 M
 Borderline cognitive functions
 Older brother of proband (marini_13_ID/EP_discovery_cases-case1). Birth/neonatal history: born at term after uneventful pregnancy; birth weight and length 25th-50th %ile, birth OFC ~50th %ile. Behavioral/psychiatric evaluation: poor social skills, some obsessive/compulsive behaviors. EEG: normal at age of 30 years. Family history: clinically unaffected father; paternal uncle (marini_13_ID/EP_discovery_cases-case3) with epilepsy (carries 15q11.2-q13.1 duplication); paternal grandfather (marini_13_ID/EP_discovery_cases-case4) with epilepsy (carries 15q11.2-q13.1 duplication); no history of intellectual disability, developmental or behavioral problems, or epilepsy in maternal branch of the family.
 Borderline cognitive functions (RPM IQ of 71); history of learning disabilities.
 23319714
 28280255
  4960542
 GRCh38
 Duplication
 No
  marini_13_ID/EP_discovery_cases-case3
 55 yrs.
 M
 Epilepsy
 Paternal uncle of proband (marini_13_ID/EP_discovery_cases-case1). Epilepsy/seizures: seizures beginning around age of 20 years for a total of 3-4 episodes; referred as tonic-clonic, treated with phenobarbital (had been seizure-free for nearly 20 years). EEG: normal (at age of 55 years). Medical history: alcohol abuse (treated with disulfiram). Family history: father with epilepsy (marini_13_ID/EP_discovery_cases-case4).
 Normal
 23319714
 28280255
  4960542
 GRCh38
 Duplication
 No
  marini_13_ID/EP_discovery_cases-case4
 74 yrs.
 M
 Epilepsy
 Paternal grandfather of proband (marini_13_ID/EP_discovery_cases-case1). Epilepsy/seizures: seizures beginning around age of 40 years, still treated with phenobarbital. Family history: one son with epilepsy, the other unaffected (both carry paternally-transmitted 15q11.2-q13.1 duplication).
 Normal
 23319714
 28280255
  4960542
 GRCh38
 Duplication
 No
  napoli_17_ASD_discovery_cases-case32
 N/A
 M
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
 
 23454554
 28246078
  4791525
 GRCh38
 Duplication
 Yes
  nava_13_ASD_discovery_cases-Fam772Proband8082
 18 yrs. 6 mos.
 M
 ASD
 Developmental milestones: age of walking of 27 mos, language delay. Neurological examination: normal. Epilepsy/seizures: none. Other features: polyembolokoilomania, delayed puberty. Dysmorphic features: bulbous nose, narrowed palpebral fissures. Growth parameters: height -3 SD, weight N/A, head circumference -0.5 SD.
 ID (moderate)
 23437561
 27795196
  4357636
 GRCh38
 Triplication
 Yes
  ohashi_21_ASD_discovery_cases-caseASD-180
 NA
 F
 ASD
 Case diagnosed with ASD according to DSM-5 criteria. Family history: older sister diagnosed with ASD (no variants detected by aCGH)
 
 23417361
 28289905
  4872545
 GRCh38
 Duplication
 Yes
  oikonomakis_16_ASD_discovery_cases-case79
 31 yrs.
 M
 ASD
 Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, hypotonia, ataxia
 
 23417362
 28289905
  4872544
 GRCh38
 Deletion
 No
  pfundt_16_nonNDD_discovery_cases-case102
 N/A
 N/A
 Non-NDD
 Disease cohort: complex phenotype. Description: Angelman syndrome (Type 1); Angelman syndrome (Type 2); Prader-Willi syndrome (Type 1); Prader-Willi Syndrome (Type 2)
 
 23319714
 29252479
  5932766
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case13050_593
 NA
 M
 Autism
 Verbal; anoxia at birth due to cord around neck; EEG yielded inconclusive results (abnormalities in one hemisphere); asthma, no dysmorphic features. Family history of autism (nephew Asperger syndrome), depression and Down's syndrome; maternal 15q1113 duplication
 Mild MR
 23394036
 28285213
  4891178
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case17035_1
 N/A
 F
 ASD
 Asperger syndrome (ADI-R: ASD, ADOS: autism), ADHD, stuttering and cluttering, no language delay, verbal, walked at 12 mo, no dysmorphic features or other anomalies, normal neurological exam, no epilepsy. Family history: both parents unaffected.
 Average IQ (WISC IV: VIQ 111, PIQ 100, FSIQ 107)
 23319714
 28201619
  4881906
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case20069_1328001
 N/A
 M
 ASD
 Autism on ADI-R and ADOS, delayed language, verbal, unusual computational skills, anxiety, milk intolerance; no dysmorphic features, head circumference 97%ile (like his father), normal gait, no epilepsy, normal vision. Family history: mother with some anxiety symptoms, allergies, and family history of depression; father healthy; no siblings.
 Borderline IQ (72)
 23319714
 28290529
  4970816
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case20187_1464001
 N/A
 M
 ASD
 Autism on ADI-R and ADOS; regression, clear loss of language and skills, nonverbal; had 4-5 possible seizures without fever at age 3-4, an EEG was normal; chronic diarrhea; normal appearance, normal gait, head circumference 1.53 SD, no known congenital abnormalities. Family history: no siblings. Father: SRS total 30; VIQ 119, PIQ 99, FSIQ 109; age at birth of child 40 y; BAPQ: total 2.86/2.53, aloof 3.25/2.75, language 1.83/2.17, rigid 3.50/2.67; PPVT 106; head circumference 58.7 cm, height 185.2 cm. Mother: SRS total 24; VIQ 99, PIQ 116, FSIQ 108; age at birth of child 41 y; BAPQ: total 2.06/2.36, aloof 1.67/2.00, language 1.83/2.42, rigid 2.67/2.67; PPVT 101; allergies, on SSRIs (but does not indicate what for)
 Intellectual disability (could not complete Differential Abilities Scale due to low functioning)
 20346670
 28290529
  7943860
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case8117_202
 N/A
 M
 ASD
 Autism (ADI-R and ADOS positive), no language delay, verbal. Family history: affected sibling (has CNV) and unaffected brother (no CNV).
 Moderate ID (WISC-III: VIQ 50, PIQ 50, FSIQ 42)
 23371803
 28299213
  4927411
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case8630_201
 13 yrs.
 M
 ASD
 Autism on ADI-R and ADOS, regression at 16 mo, language delay (first phrases 48 mo); no dysmorphic features, no epilepsy. Family history: both parents unaffected; no siblings; cousin with ASD.
 Average IQ (VIQ 80, PIQ 101, FSIQ 89), based on WASI at 13 y
 22011483
 28290529
  6279047
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case8741_201
 5 yrs.
 F
 ASD
 Autism on ADI-R, language delay, eating and sleeping difficulties, chronic ear infections; no epilepsy. Family history: duplication present in brother with autism (autism on ADI; language delay: first words 3 y, first sentences 4 y; at 11 y, receptive language skills in the mild severity range and expressive language skills in the average range; low average IQ: VIQ 89, PIQ 84, FSIQ 86; no epilepsy) and in 1 sister with speech delay (not screened for autism); absent in 3 healthy sisters; mother carries a duplication of maternal origin and has learning disability and autistic traits; father healthy.
 Moderate ID (at 5 y: VIQ 51, PIQ 45, FSIQ 47)
 23371803
 28396352
  5024550
 GRCh38
 Duplication
 Yes
  quintela_17_DD/ID_discovery_cases-caseID_337
 12 yrs.
 M
 Intellectual disability and epilepsy
 Epilepsy.
 Intellectual disability
 23370621
 28315518
  4944898
 GRCh38
 Duplication
 No
  riikonen_15_EP/DD/ASD_discovery_cases-proband
 17 mos.
 F
 Epilepsy and developmental delay
 Birth/neonatal history: born at 40 + 5 weeks gestation after normal pregnancy and delivery (mother had taken 1500 mg/day valproate for epilepsy during pregnancy); birth weight of 3882 g, height of 53 cm, and head circumference of 35 cm; Apgar score of 8 at 5 min. Developmental milestones:. normal early development except for slight delay in early motor milestones. Motor and musculoskeletal evaluation: flexor spasms and slight hypotonia at age of 8 months; lack of pincer grip and low muscle tone at age of 17 months; able to crawl and stand with support at age of 17 months. Behavioral/psychiatric evaluation: repetitive movements at age of 8 months; maintained good eye contact at age of 17 months; interest in toys, which she would immediately put into mouth. Epilepsy/seizures: diagnosis of infantile spasms at age of 8 months; spasms treated with vigbartin (up to 150 mg/kg/d for 5 weeks without response), ACTH (0.5 mg for 10 days with rapid response), prednisolone (30 mg/d/5 days, 20 mg/5 days, 10 mg/5 days), and valproate. EEG: typical hypsarrhythmic pattern. Dysmorphic features: none reported. Growth parameters: head circumference, height, and weight at 50th %ile. Family history: mother was 30 years old and father was 35 years old at time of birth; proband's mother with history of infantile spasms and learning difficulties (positive for 15q11.2-q13.1 duplication); 5-year-old brother of proband diagnosed with autism and learning disabilities (positive for 15q11.2-q13.1 duplication).
 Developmental delay
 23319714
 28696172
  5376459
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case11403
 NA
 NA
 ASD
 NA
 NA
 20362442
 27748492
  7386050
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case23914
 NA
 NA
 ASD
 NA
 NA
 20362442
 26079398
  5716956
 Unknown
 Deletion
 Yes
  rosenfeld_10_ASD_discovery_cases-case24359
 NA
 NA
 ASD
 NA
 NA
 20366470
 26194049
  5827579
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case25934
 NA
 NA
 ASD
 NA
 NA
 22577151
 26079398
  3502247
 Unknown
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case26098
 NA
 NA
 ASD
 NA
 NA
 21208176
 26194048
  4985872
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1130-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 23375712
 28290120
  4914409
 GRCh38
 Deletion
 Yes
  sansovic_17_DD/ID/ASD_discovery_cases-case28
 17 yrs.
 F
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 23411789
 28275167
  4863379
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case3
 2 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Dysmorphism
 
 23411789
 28275167
  4863379
 GRCh38
 Deletion
 No
  shen_10_ASD_discovery_cases-ASD-09-059
 NA
 M
 ASD
 NA
 NA
 23422864
 28295311
  4872448
 GRCh38
 Duplication
 No
  shin_15_ASD/DD/ID_discovery_cases-case11
 1 yrs.
 F
 DD and seizures
 Developmental delay, seizures
 
 23319714
 28769879
  5450166
 GRCh38
 Deletion
 Yes
  stobbe_13_ASD_discovery_cases-case30
 26 yrs.
 F
 Asperger syndrome and attention deficit disorder (ADD)
 Family history: 1 brother with neurodevelopmental disorder. Karyotype and Fragile X testing: normal.
 IQ 87
 23411788
 28275168
  4863381
 GRCh38
 Duplication
 No
  tammimies_15_ASD_discovery_cases-case3-0021-000
 N/A
 F
 ASD
 Dysmorphic features: smooth philtrum, overbite, dental crowding, high palate, low set ears. Persistently abnormal EEG with potential epileptogenic discharges but no clinical seizures.
 
 23319714
 28281759
  4962046
 GRCh38
 Duplication
 No
  tan_14_ASD/DD_discovery_cases-case1
 5 yrs. 8 mos.
 M
 ASD and developmental delay
 Case first presented at 5 years 8 months of age with severe language delay, hyperactivity, and a preoccupation with water; later diagnosed with autism spectrum disorder (diagnostic tools not reported). Birth/neonatal history: delivered at full term; birth weight of 2950 g; no perinatal issues. Developmental milestones: severe language delay. Language and communication evaluation: verbal language limited to repetition of a few words and pointing for needs. Behavioral/psychiatric evaluation: hyperactivity, difficulty in engaging in pre-school activities, preoccupation with water. Dysmorphic features: none. Family history: 6th child of healthy, unrelated parents of Malay ancestry; mother was 33 years old at time of case's birth; older brother with ASD, but four other siblings are phenotypically normal.
 Intellectual impairment
 23417362
 28289905
  4872544
 GRCh38
 Duplication
 Yes
  tiwari_12_EP_discovery_cases-patient6
 4.5 yrs
 M
 Epilepsy
 Age of onset of seizures: 3 months. EEG: background activity was diffusively slow for age with sharply contoured waveform in right temporal (at 18 mos.); normal EEG at 4.5 yrs. Brain imaging: mixture of gray-white matter in basal ganglia, cerebellar peduncles and pyramidal tracts, abnormal glutamine peak and mild increased lactate peak in thalamus on MRI/MRS; diffuse cortical hypometabolism on PET. Clinical characteristics and comorbidities: developmental delay, autistic features.
 Developmental delay
 21253178
 26039213
  4786035
 Unknown
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case36
 
 F
 Angelman syndrome
 Typical of AS
 
 23319714
 101981189
  78661476
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case38
 
 M
 Angelman syndrome
 Typical of AS, seizures, ataxia
 
 23417362
 28289905
  4872544
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case79
 
 F
 ASD
 Antimogoloid palpebral fissures, long philtrum, hypotonia, walking ataxia, triangular digits, corpus callosum hypoplasia, ASD
 
 20276449
 28289905
  8013457
 GRCh38
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-005
 6 yrs. 3 mos.
 M
 ADHD
 ADOS calibrated severity score: 4. EEG: variant. Dysmorphic features: broad forehead, long palpebral fissures, short nose, long philtrum, pointed chin. Other findings: hernia, orbital facial asymmetry. Neurological findings: attention deficit.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 83
 N/A
 N/A
  5700000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-007
 12 yrs.
 M
 Autism
 ADOS calibrated severity score: 9. EEG: normal. Dysmorphic features: long bulbous nose, long philtrum, thin upper lip. Other findings: hernia. Neurological findings: attention deficit.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): incomplete
 N/A
 N/A
  5000000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-008
 11 yrs.
 F
 Autism
 ADOS calibrated severity score: 10. EEG: normal. Dysmorphic features: round face, short bulbous nose, anteverted nares, long philtrum, full cheeks. Other findings: diabetes mellitus, nasal labial folds asymmetry.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 89
 N/A
 N/A
  6500000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-009
 3 yrs.
 F
 Autism
 ADOS calibrated severity score: 10. EEG: variant. Dysmorphic features: N/A. Neuorlogical findings: hypotonia.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): incomplete
 N/A
 N/A
  5000000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-011
 6 yrs. 8 mos.
 F
 ASD
 ADOS calibrated severity score: 3. EEG: variant. Dysmorphic features: round face, long palpebral fissures, short bulbous nose, wide nasal bridge, anteverted nares, long philtrum, full cheeks, wide mouth. Other findings: nasal labial folds asymmetry. Neurological findings: neonatal tremors, apraxia, hemiparesis.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 71
 N/A
 N/A
  5800000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-013
 4 yrs. 8 mos.
 M
 Autism
 ADOS calibrated severity score: N/A. EEG: normal. Dysmorphic features: round face, short bulbouse nose, wide nasal bridge, long philtrum, thin upper lip, full cheeks. Other findings: hernia, congenital heart defect, abnormal genitalia, nasal labial folds asymmetry.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 72
 N/A
 N/A
  5800000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-014
 11 yrs.
 M
 Autism
 ADOS calibrated severity score: 9. EEG: variant. Dysmorphic features: round face, broad forehead, long palpebral fissures, short bulbous nose, wide nasal bridge, long philtrum, thin upper lip, full cheeks. Neurological findings: hypotonia, attention deficit, brain malformation.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 100
 N/A
 N/A
  5000000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-015
 5 yrs. 5 mos.
 F
 Attention deficits
 ADOS calibrated severity score: 3. EEG: variant. Dysmorphic features: round face, long palpebral fissures, short bulbous nose, wide nasal bridge, anteverted nares, long philtrum, thin upper lip, full cheeks. Neurological findings: attention deficit, hypotonia. Behavioral/psychiatric evaluation: smiling, eye contact, presented a full affect and attended well during evaluation.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): 77
 N/A
 N/A
  5000000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-017
 3 yrs. 1 mo.
 F
 Dysmorphic features
 ADOS calibrated severity score: N/A. EEG: variant. Dysmorphic features: round face, long palpebral fissures, short nose, wide nasal bridge, anteverted nares, long philtrum, thin upper lip, full cheeks, wide mouth. Other findings: nasal labial folds asymmetrry, relaxed facial muscles. Neurological findings: hypotonia, hemiparesis.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): incomplete
 N/A
 N/A
  5100000
 GRCh37
 Duplication
 No
  urraca_13_ASD_discovery_cases-case801-018
 4 yrs. 9 mos.
 M
 Autism
 ADOS calibrated severity score: 9. EEG: variant. Dysmorphic features: broad forehead, long palpebral fissures, short bulbous nose, wide nasal bridge, anteverted nares, long philtrum, pointed chin, full cheeks, wide mouth. Neurological findings: brain malformation, seizures.
 Full IQ (as determined by Wechsler Preschool and Primary Scale of Intelligence-4th Edition or Wechsler Abbreviated Scale of Intelligence): incomplete
 N/A
 N/A
  5300000
 GRCh37
 Duplication
 No
  urraca_16_ASD_discovery_cases-caseIII-4
 35 yrs.
 F
 ASD
 Diagnosis of mild ASD established at age of 34 years by ADOS-2 and ADI-R. Birth/neonatal history: born with unilateral preauricular pit. Behavioral/psychiatric evaluation: history of ADHD. Additional medical history: a sacral dermoid cyst, large hemangioma on the left forearm, and another on the left inner thigh were removed in childhood; precancerous colonic polyps removed at age 30; right subtotal nephrectomy due to renal carcinoma chromophobe cell type at age 33. Family history: two affected children with severe ASD; positive family history of cancer, including a father with similar precancerous polyps, an 83-year-old maternal grandmother with Kaposi sarcoma, non-HIV related, and a maternal grandfather who died at age 83 and had prostate cancer. Additional genetic information: 15q11.2-q13.1 duplication demonstrates somatic mosaicism (61.6% of blood cells, 67% of fibroblasts).
 History of learning disabilities. Overall below average IQ of 75 on Wechsler Abbreviated Scale of Intelligence second edition; significant discrepancy between reasoning domains with low average Verbal Comprehension Index of 89 and well below average Perceptual Reasoning Index of 66.
 N/A
 N/A
  5000000
 Unknown
 Duplication
 No
  urraca_16_ASD_discovery_cases-caseIV-1
 9 yrs.
 M
 ASD
 Case administered ADOS-2, Module 1, at age of 5 years and had a Comparison Score of 10/10, suggesting a high level of ASD symptomology (case also met diagnostic algorithm cut-off score on ADI-R). Birth/neonatal history: born prematurely at 34 weeks; birth weight of 2300 g (60th %ile) and length of 45 cm (60th %ile); newborn abdominal ultrasound showed prominent renal pelvis bilaterally; spent 5 days at NICU for respiratory distress and required ozygen; history of hypotonia and seizures from 6 weeks of age (now under control with oxcarbazepine therapy). Developmental milestones: delayed early motor and language developmental milestones. Motor and musculoskeletal evaluation: hypotonia, wide base to gait, left in-toeing. Brain imaging: brain MRI remarkable for periventricular leukomalacia. Additional medical history: lumbar spine MRI revealed incomplete formation of distal sacrum and coccyx and a tiny pilondial sinus tract. Dysmorphic features: flat vascular birthmark on forehead at midline, short palpebral fissures, long eyelashes, bushy eyebrows, mild droopy eyelids, mildly lax facial features. Family history: both mother and male sibling present with ASD and also carry 15q11.2-q13.1 duplication; positive family history of cancer on the maternal side.
 Intellectual disability (IQ of 47 on abbreviated Stanford-Binet-V)
 N/A
 N/A
  5000000
 Unknown
 Duplication
 No
  urraca_16_ASD_discovery_cases-caseIV-2
 6 yrs.
 M
 ASD
 Case administered ADOS-2, Module 1, at age of 3.5 years and had a Comparison Score of 8/10, suggesting a high level of autism-related symptomology (case also met diagnostic algorithm cut-off score of ADI-R). Birth/neonatal history: born full term with weight of 3800 g (50th %ile) and length of 52 cm (75th %ile); presented with shoulder dystocia and difficulty breathing requiring intubation at birth (recovered and required no further treatment). Developmental milestones: early motor and langugae development thought to be normal. Motor and musculoskeletal evaluation: lower extremity tone was decreased bilaterally; increased upper extremity tone; general joint laxity. Behavioral/psychiatric evaluation: near daily anger outbursts, during which he becomes physically aggressive, which is treated with risperidone. Brain imaging: normal brain MRI. Dysmorphic features: bilateral epicanthal folds, deep infraorbital creases, horizontal palpebral fissures, long eyelashes, short nose, flat nasal bridge, long philtrum. Family history: both mother and male sibling present with ASD and also carry 15q11.2-q13.1 duplication; positive family history of cancer on the maternal side.
 Average IQ of 73 on Wechsler Preschool and Primary Scale of Intelligence (WPPSI-IV)
 N/A
 N/A
  5000000
 Unknown
 Duplication
 No
  wang_18_TS_discovery_cases-case25169.p1
 N/A
 N/A
 Tourette syndrome
 Tourette syndrome proband from phase 1 cohort; no additional clinical information available
 
 23319714
 29054120
  5734407
 GRCh38
 Duplication
 Yes
  wintle_10_ASD_discovery_cases-AN00090
 10
 F
 Angelman Syndrome
 Angelman Syndrome
 
 23396367
 28460005
  5063639
 GRCh38
 Deletion
 Yes
  wolfe_16_ID_discovery_cases-DECIPHER327124
 22 yrs.
 M
 Intellectual disability, ASD, and bipolar disorder
 Psychiatric history: autistic spectrum disorder (ASD), bipolar disorder, personality disorder, alcohol abuse, on forensic in-patient section. Mini PAS-ADD evaluation: not available. BPI-S evaluation: at least weekly aggressive/destructive behavior. Medical history: none recorded. Dysmorphic features: no gross dysmorphology reported. Growth parameters: height 182 cm, head circumference N/A. Ethnicity: white (British).
 Mild intellectual disability
 23565337
 28273996
  4708660
 GRCh38
 Duplication
 Yes
  wolfe_16_ID_discovery_cases-DECIPHER327127
 33 yrs.
 F
 Intellectual disability
 Psychiatric history: anxiety disorder. Mini PAS-ADD evaluation: anxiety disorder. BPI-S evaluation: at least weekly self-injurious behavior and stereotyped behavior. Medical history: hypotonia as an infant, epilepsy during infancy, probable diplopia, abnormality on neuroimaging. Dysmorphic features: upward slanting palpebral fissures, prognathia, protruding tongue, hypopigmentation of the skin. Growth parameters: height 161 cm, head circumference 53 cm. Ethnicity: white (British).
 Severe intellectual disability
 23397953
 28273996
  4876044
 GRCh38
 Deletion
 Yes
  xu_16_ASD/DD/ID_discovery_cases-case33
 N/A
 N/A
 ASD
 Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis). Family history: proband's younger brother has less severe form of ASD. 15q11.2-q13.1 duplication was inherited from healthy father; duplication not present in younger affected brother or unaffected sister.
 
 23396355
 28315658
  4919304
 GRCh38
 Duplication
 Yes
  xu_16_ASD/DD/ID_discovery_cases-case6
 N/A
 N/A
 Angelman syndrome
 Case diagnosed with Angelman syndrome.
 
 22296468
 28670378
  6373911
 GRCh38
 Deletion
 No
  yang_13_DD/ID_discovery_cases-patient2
 9 yrs.
 M
 Developmental delay/intellectual disability and behavioral problems
 Patient karyotype: 47, XY+invdup(15)(q11q13); patient has supernumerary chromosome 15 (SMC15) consisting of one copy of 15q11.2-q13.1 and one copy of 15q11.2-q13.3. Birth/neonatal history: uneventful pregnancy and delivery; birth weight 75th %ile, length 50th %ile, head circumference 50th %ile. Developmental milestones: did not walk until 2 years old, said simple words at 3, started to play with peers at 4. Langauge and communication evaluation: spoke simple sentences, unable to repeat stories. Motor and musculoskeletal evaluation: difficulties in standing straight and joint laxity at age of 8 years; no problems in walking and running at 9 years. Behavioral/psychiatric evaluation: behavioral problems began at age of 2 years; did not like to join group activities, tendency towards aggression and destructiveness. EEG: normal. Brain imaging: normal cranial CT. Dysmorphic features: hypertelorism, slightly anteverted nares, low-set ears, pathic facial expression. Growth parameters: weight of 31.5 kg (95th %ile), height of 125 cm (50th %ile), and head circumference of 53 cm (75th %ile) at 9 years. Family history: born to unrelated parents (mother 34 years of age, father 29 years of age).
 Evaluation with WISC-IV at 9 years of age: verbal comprehension, 45; perceptual reasoning, 40; working memory, 50; processing speed, 46; full-scale IQ, 41.
 21849316
 29766299
  7916984
 GRCh38
 Duplication
 Yes
  yuen_17_ASD_discovery_cases-caseAU4007301
 N/A
 N/A
 ASD
 Case cohort: AGRE. Clinical description: N/A
 
 23319714
 28589854
  5270141
 GRCh38
 Duplication
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0611-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 23319714
 28670718
  5351005
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case154609
  NA NA
 N/A
 M
 ADHD
 Primary diagnosis: ADHD. Additional phenotype(s): Oppositional defiant disorder
 
 23319714
 28683584
  5363871
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case166808
  NA NA
 N/A
 M
 Schizophrenia
 Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
 
 23319714
 28282613
  4962900
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1288-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 23319714
 28683584
  5363871
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0021-000
  NA NA
 N/A
 F
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 23319714
 28281759
  4962046
 GRCh38
 Duplication
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD1157-HAM493
  NA NA
 N/A
 F
 OCD
 Primary diagnosis: OCD. Additional phenotype(s): no additional phenotypes reported
 
 23370634
 28289099
  4918466
 GRCh38
 Duplication
 Yes

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  chen_17_ASD_discovery_controls1-control1
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  24537108
  28464134
  3927027
  GRCh38
  Duplication
 
  chen_17_ASD_discovery_controls1-control2
  N/A
  N/A
  Control
  Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
 
  23396355
  28315658
  4919304
  GRCh38
  Duplication
 

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG1161
 
 
 Unknown
 Unknown
 Unknown
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient1
 
 
 De novo, maternal chromosome
 
 
 NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient10
 
 
 De novo
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient11
 
 
 De novo
 
 
 NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient12
 
 
 De novo
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient13
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient14
 
 
 De novo
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient16
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient17
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient18
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient19
 
 
 De novo
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient2
 
 
 Paternal [der of paternally transmitted (15q;6p)]
 
 
 IGHV1OR15-9,SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient20
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient21
 
 
 De novo
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient22
 
 
 De novo
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient23
 
 
 Maternal
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient24
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient3
 
 
 De novo, maternal chromosome
 
 
 NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient4
 
 
 De novo
 
 
 NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient5
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient6
 
 
 De novo, maternal chromosome
 
 
 NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient7
 
 
 De novo, maternal chromosome
 
 
 NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient8
 
 
 Unknown (not maternal)
 
 
 NBEAP1, POTEB, CYFIP1, NIPA1, NIPA2, TUBGCP5, MRRN3, MAGEL2, NDN, PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 al_ageeli_13_ASD/DD/ID/EP_discovery_cases-patient9
 
 
 De novo, maternal chromosome
 
 
 PWRN2, PWRN1, NPAP1, SNRPN, IPW, SNORD116-1, SNORD115-1, UBE3A, ATP10A, GABRB3, GABRA5, GABRG3, OCA2, HERC2
 
 annunziata_21_ASD_discovery_cases-caseIB267
 qPCR, FISH
 
 Unknown
 
 
 MAGEL2,ABCB10P1,ATP10A,NIPA2,SNORD107,TUBGCP5,NIPA1,PWAR1,GABRG3,GABRB3,GABRA5,GOLGA6L2,GOLGA8IP,GOLGA6L1,WHAMMP3,SNORD109A,SNORD115-1,SNORD108,SNORD109B,SNORD64,GOLGA8EP,HERC2P2,GOLGA6L22,LINC00929,RPL5P1,SPATA31E3P,SNORD116-19,GOLGA8S,SNORD115-28,SNORD116-3,SNORD115-6,SNORD116-8,SNORD115-26,SNORD116-16,SNORD115-21,SNORD115-19,SNORD116-7,SNORD115-23,SNORD115-22,SNORD116-13,SNORD115-11,SNORD115-15,SNORD116-12,SNORD115-41,SNORD115-29,SNORD116-18,SNORD115-45,SNORD115-32,SNORD116-5,SNORD115-35,SNORD115-44,SNORD116-26,SNORD116-23,SNORD116-27,SNORD115-36,SNORD116-4,SNORD116-15,SNORD115-33,SNORD116-20,SNORD115-25,SNORD116-2,SNORD115-43,SNORD115-13,SNORD116-9,SNORD116-14,SNORD115-17,SNORD115-4,SNORD115-5,SNORD115-2,SNORD116-28,SNORD115-24,SNORD115-9,SNORD115-31,SNORD115-16,SNORD115-27,SNORD115-20,SNORD115-12,SNORD115-38,SNORD115-39,SNORD115-10,ELMO2P1,SNORD116-25,SNORD116-22,SNORD115-48,PWRN1,SNORD116-1,SNORD116-10,SNORD115-37,SNORD116-29,SNORD116-6,SNORD116-11,SNORD115-3,SNORD115-42,SNORD115-47,SNORD115-18,SNORD115-34,SNORD115-14,SNORD115-7,SNORD115-8,PWRN2,SNORD115-30,SNORD116-24,SNORD116-21,SNORD115-40,SNORD116-17,TVP23BP1,LINC02346,OCA2,NDN,HERC2P7,GOLGA8DP,RPL5P32,DMAC1P1,MIR4509-1,MIR4508,RNA5SP391,PDCD6IPP1,RNA5SP390,MIR4715,SNORD115-46,SNORD116-30,GABRG3-AS1,SERPINE4P,SNHG14,PWRN4,LINC02250,RN7SL106P,UBE3A,SNRPN,RNU6-741P,RN7SL495P,RN7SL536P,RN7SL545P,LINC02248,SNURF,MKRN3,HERC2,HERC2P6,PWAR5,NPAP1,CYFIP1
 
 brandler_16_ASD_discovery_cases_caseREACH000316
 Solid phase hybridization (Illumina 2.5M)
 
 De novo
 Unknown
 Possibly segregated
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 brandler_18_ASD_discovery_cases-caseREACH000316
 SNP VCF
 
 De novo
 
 
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,SNHG14
 
 burrage_12_PWS_discovery_cases-case1
 FISH, karyotype analysis, array SNP
 
 De novo
 Simplex
 Segregated
 MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,GABRG3,HERC2,SNHG14
 
 calderoni_20_ASD_discovery_cases-caseP18
 qPCR
 
 Unknown
 
 
 HERC2P6,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,DMAC1P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,RNA5SP391,SERPINE4P,RPL5P32,GOLGA6L2,PWRN2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,SNRPN,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,GABRG3-AS1,OCA2,PWRN1,GABRG3,HERC2,SNHG14
 
 calderoni_20_ASD_discovery_cases-caseP21
 qPCR
 
 Maternal
 
 
 HERC2P6,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,DMAC1P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,RNA5SP391,SERPINE4P,RPL5P32,GOLGA6L2,PWRN2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,SNRPN,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,GABRG3-AS1,OCA2,PWRN1,GABRG3,HERC2,SNHG14
 
 castronovo_14_ASD/DD/EP_discovery_cases-case2
 Microsatellite analysis, FISH
 
 De novo
 Simplex
 Segregated
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,NCAPGP2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,GABRG3,HERC2,FAM189A1,SNHG14
 
 ceylan_18_DD/ID_discovery_cases-case12
 
 
 De novo
 
 
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,RN7SL719P,GOLGA6L7,NSMCE3,TUBBP8,HMGN2P5,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,GOLGA8M,WHAMMP2,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,PDCD6IPP2,APBA2,TJP1,GABRG3,HERC2,FAM189A1,SNHG14
 
 chaves_19_ASD/DD/ID_discovery_cases-case184
 
 
 Unknown
 
 
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,GOLGA8S,GOLGA6L2,PWRN2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,MKRN3,PWRN4,SNRPN,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,GABRG3-AS1,OCA2,PWRN1,GABRG3,HERC2,SNHG14
 
 chaves_19_ASD/DD/ID_discovery_cases-case306
 
 
 Unknown
 
 
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,GOLGA8S,GOLGA6L2,PWRN2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,MKRN3,PWRN4,SNRPN,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,GABRG3-AS1,OCA2,PWRN1,GABRG3,HERC2,SNHG14
 
 chen_17_ASD_discovery_cases-caseU-1067
 RT-qPCR
 
 Unknown
 
 
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 chen_17_ASD_discovery_cases-caseU-1807
 RT-qPCR
 
 Unknown
 
 
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 chen_21_ASD/DD/ID_discovery_cases-case22
 
 
 Unknown
 
 
 RN7SL536P,HERC2P6,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,DMAC1P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,SNRPN,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,GABRG3-AS1,OCA2,PWRN1,GABRG3,HERC2,SNHG14
 
 chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1052
 Nimblegen aCGH
 
 De novo
 Simplex (negative family history)
 Segregated
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 depienne_09_ASD_discovery_cases-patient2
 FISH
 
 Paternal
 NA
 NA
 
 
 depienne_09_ASD_discovery_cases-patient3
 FISH
 
 De novo, maternal
 NA
 NA
 
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300524
 qPCR
 
 Maternal
 
 
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300676
 qPCR
 
 De novo
 
 
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 engchuan_15_ASD_discovery_cases-case13050_593
 
 
 De novo
 
 
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 engchuan_15_ASD_discovery_cases-case17035_1
 
 
 De novo
 
 
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 engchuan_15_ASD_discovery_cases-case20069_1328001
 
 
 De novo
 
 
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 engchuan_15_ASD_discovery_cases-case20187_1464001
 
 
 De novo
 
 
 GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 engchuan_15_ASD_discovery_cases-case8117_202
 
 
 Unknown
 
 
 MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 engchuan_15_ASD_discovery_cases-case8630_201
 
 
 De novo
 
 
 OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 fan_19_ASD_discovery_cases-caseASD050
 
 
 Unknown
 Unknown
 Unknown
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 fan_19_ASD_discovery_cases-caseASD061
 
 
 Unknown
 Unknown
 Unknown
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 fan_19_ASD_discovery_cases-caseASD317
 
 
 Unknown
 Unknown
 Unknown
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 feliciano_19_ASD_discovery_cases-caseSP0007317
 
 
 De novo
 
 
 RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,GOLGA8S,GOLGA6L2,PWRN2,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,MKRN3,PWRN4,SNRPN,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,GABRG3-AS1,OCA2,PWRN1,GABRG3,HERC2,SNHG14
 null
 fu_21_ASD/DD/EP_discovery_cases-case1
 MLPA
 
 De novo
 
 
 MAGEL2,ATP10A,SNORD107,PWAR1,GABRG3,GABRB3,GABRA5,SNORD109A,SNORD115-1,SNORD108,SNORD109B,SNORD64,LINC00929,RPL5P1,SNORD116-19,SNORD115-28,SNORD116-3,SNORD115-6,SNORD116-8,SNORD115-26,SNORD116-16,SNORD115-21,SNORD115-19,SNORD116-7,SNORD115-23,SNORD115-22,SNORD116-13,SNORD115-11,SNORD115-15,SNORD116-12,SNORD115-41,SNORD115-29,SNORD116-18,SNORD115-45,SNORD115-32,SNORD116-5,SNORD115-35,SNORD115-44,SNORD116-26,SNORD116-23,SNORD116-27,SNORD115-36,SNORD116-4,SNORD116-15,SNORD115-33,SNORD116-20,SNORD115-25,SNORD116-2,SNORD115-43,SNORD115-13,SNORD116-9,SNORD116-14,SNORD115-17,SNORD115-4,SNORD115-5,SNORD115-2,SNORD116-28,SNORD115-24,SNORD115-9,SNORD115-31,SNORD115-16,SNORD115-27,SNORD115-20,SNORD115-12,SNORD115-38,SNORD115-39,SNORD115-10,SNORD116-25,SNORD116-22,SNORD115-48,PWRN1,SNORD116-1,SNORD116-10,SNORD115-37,SNORD116-29,SNORD116-6,SNORD116-11,SNORD115-3,SNORD115-42,SNORD115-47,SNORD115-18,SNORD115-34,SNORD115-14,SNORD115-7,SNORD115-8,PWRN2,SNORD115-30,SNORD116-24,SNORD116-21,SNORD115-40,SNORD116-17,TVP23BP1,LINC02346,OCA2,NDN,RPL5P32,DMAC1P1,MIR4508,RNA5SP391,RNA5SP390,MIR4715,SNORD115-46,SNORD116-30,GABRG3-AS1,SERPINE4P,SNHG14,PWRN4,LINC02250,UBE3A,SNRPN,RNU6-741P,LINC02248,SNURF,MKRN3,HERC2,PWAR5,NPAP1
 
 ghasemi_firouzabadi_16_ASD_discovery_cases-p21
 MLPA
 
 De novo
 Simplex
 Likely segregated
 N/A
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0447
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0448
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0449
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0450
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0451
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0452
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0453
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0454
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0455
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0456
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0457
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0458
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0459
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0460
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0461
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0462
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0463
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0464
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0465
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0466
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0467
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0468
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0469
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0470
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0471
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0472
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0473
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0474
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0475
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0476
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0477
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0478
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0479
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0480
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0481
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0482
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0483
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0484
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0485
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0486
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0487
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0488
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0489
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0490
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0491
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0492
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0493
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0494
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0495
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0496
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0497
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0498
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0499
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0500
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0501
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0502
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0503
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0504
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0505
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0506
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0507
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0508
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0509
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0510
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0511
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0512
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0513
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0514
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0515
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0516
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0517
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0518
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0519
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0520
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0521
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0522
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0523
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0524
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0525
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0526
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0527
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0528
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0529
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0530
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0531
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0532
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0533
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0534
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0535
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0536
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0537
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0538
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0539
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0540
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0541
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0542
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0543
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0544
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0545
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0546
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0547
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0548
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0549
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0550
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0551
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0552
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0553
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0554
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0555
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0556
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0557
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0558
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0559
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0560
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0561
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0562
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0563
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0564
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0565
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0566
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0567
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0568
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0569
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0570
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0571
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0572
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0573
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case0574
 NA
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case20500
 FISH, aCGH, or confirmation by inheritance
 
 De novo
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case20880
 FISH, aCGH, or confirmation by inheritance
 
 De novo
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case22848
 FISH, aCGH, or confirmation by inheritance
 
 Paternal
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case24781
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case26098
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Mulitplex for ASD/autistic features
 Possibly segregated
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case27397
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case29163
 FISH, aCGH, or confirmation by inheritance
 
 Maternal
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case29221
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case33459
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case34299
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case37514
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case51967
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case57860
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_12_ASD/DD/ID_discovery_cases-case57872
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,GABRG3,HERC2,SNHG14
 
 girirajan_13a_ASD_discovery_cases-12007.p1
 aCGH (NimbleGen 135K array)
 
 De novo
 Simplex
 Possibly segregated
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_ASD_discovery_cases-14159.p1
 
 
 Unknown
 Simplex
 Unknown
 IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase140
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase141
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase142
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase143
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase144
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase145
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase146
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase147
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,SNORD109B,RNA5SP390,MIR4715,GABRG3-AS1,RNA5SP391,SERPINE4P,RPL5P32,RPL41P2,GOLGA8F,RN7SL238P,ABCB10P3,MIR4509-2,MIR4509-3,HERC2P11,CHEK2P2,SPATA31E2P,NBEAP1,NF1P1,FAM30C,POTEB3,POTEB,NF1P2,GOLGA8DP,GOLGA6L22,GOLGA8IP,PDCD6IPP1,NIPA2,TUBGCP5,ELMO2P1,GOLGA6L1,GOLGA8EP,GOLGA8S,GOLGA6L2,PWRN2,PWRN3,SNURF,PWAR5,LINC00929,LINC02248,TVP23BP1,ABCB10P4,GOLGA8G,HERC2P9,HERC2P3,POTEB2,NF1P9,HERC2P2,WHAMMP3,NIPA1,CYFIP1,MKRN3,PWRN4,PWRN1,SNRPN,PWAR6,UBE3A,LINC02250,ATP10A,LINC02346,GABRB3,GABRA5,OCA2,LINC01193,GABRG3,HERC2,SNHG14
 
 girirajan_13a_DD_discovery_cases-DDcase148
 
 
 Unknown
 
 
 SLC20A1P3,IGHV1OR15-2,IGHV3OR15-7,IGHD5OR15-5A,IGHD4OR15-4A,IGHD3OR15-3A,IGHD2OR15-2A,IGHD1OR15-1A,FAM30B,BCAR1P1,RN7SL584P,BMS1P15,GOLGA6L6,GOLGA8CP,RN7SL759P,IGHV1OR15-6,RNU6-498P,GRAMD4P5,MIR3118-2,RNU6-749P,ZNF519P2,MIR5701-1,OR11J2P,OR11J5P,IGHD5OR15-5B,IGHD4OR15-4B,IGHD3OR15-3B,IGHD2OR15-2B,IGHD1OR15-1B,BCAR1P2,RN7SL400P,BMS1P16,RNU6-1235P,CXADRP2,GRAMD4P6,MIR3118-3,MIR5701-2,LINC02203,OR11K1P,MIR3118-4,RNU6-631P,ZNF519P3,MIR5701-3,OR11J7P,OR11J6P,OR11H3P,OR4Q1P,OR4H6P,OR4M2,OR4N4,OR4N3P,RPS8P10,IGHV1OR15-1,IGHV1OR15-3,IGHV4OR15-8,IGHV1OR15-4,MIR1268A,SPATA31E3P,RN7SL545P,HERC2P7,RN7SL495P,RN7SL106P,ABCB10P1,MIR4509-1,RN7SL536P,MIR4508,MAGEL2,NDN,RNU6-741P,NPAP1,RPL5P1,SNORD107,SNORD64,SNORD108,SNORD109A,SNORD116-1,SNORD116-2,SNORD116-3,SNORD116-4,SNORD116-5,SNORD116-6,SNORD116-7,SNORD116-8,SNORD116-9,SNORD116-10,SNORD116-11,SNORD116-12,SNORD116-13,SNORD116-14,SNORD116-15,SNORD116-16,SNORD116-17,SNORD116-18,SNORD116-19,SNORD116-20,SNORD116-21,SNORD116-22,SNORD116-23,SNORD116-24,SNORD116-25,SNORD116-26,SNORD116-27,SNORD116-28,SNORD116-29,SNORD116-30,PWAR1,TMEM261P1,SNORD115-1,SNORD115-2,SNORD115-3,SNORD115-4,SNORD115-5,SNORD115-6,SNORD115-7,SNORD115-8,SNORD115-9,SNORD115-10,SNORD115-11,SNORD115-12,SNORD115-13,SNORD115-14,SNORD115-15,SNORD115-16,SNORD115-17,SNORD115-18,SNORD115-19,SNORD115-20,SNORD115-21,SNORD115-22,SNORD115-23,SNORD115-24,SNORD115-25,SNORD115-26,SNORD115-27,SNORD115-28,SNORD115-29,SNORD115-30,SNORD115-31,SNORD115-32,SNORD115-33,SNORD115-34,SNORD115-35,SNORD115-36,SNORD115-37,SNORD115-38,SNORD115-39,SNORD115-40,SNORD115-41,SNORD115-42,SNORD115-43,SNORD115-44,SNORD115-45,SNORD115-46,SNORD115-47,SNORD115-48,