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22q11.21CNV Type: Deletion-Duplication


Largest CNV size: 2799900 bp

Statistics Box:
Number of Reports: 80



Summary Information

Duplications at the 22q11.21 locus have been observed more frequently than deletions in autistic individuals. Deletions within the 22q11.2 locus can lead to DiGeorge Syndrome (DGS)/Velocardiofacial Syndrome (VCFS), while duplications appear to confer a milder, more variable phenotype.

Additional Locus Information

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
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.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
De novo rates and selection of large copy number variation.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
High rate of disease-related copy number variations in childhood onset schizophrenia.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion-Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion-Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder.
Deletion-Duplication
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions.
Deletion-Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion-Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Duplication
NA
Deletion
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion-Duplication
NA
Duplication
NA
Deletion-Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Duplication
Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Duplication
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion-Duplication
Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Deletion
Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescen...
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion-Duplication
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion-Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
NA
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
NA
Deletion-Duplication
NA
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion-Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Duplication
NA
Duplication
NA
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahn_13_SCZ_discovery_cases
 Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs
 126
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.
 N/A
 N/A
 2985000
 5
 0
 5
 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
 3154118
 3
 0
 3
 bartnik_12_EP_discovery_cases
 102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
 102
 Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
 NA
 NA
 2397000
 1
 0
 1
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 3000000
 1
 1
 2
 breckpot_16_ID/catatonia_discovery_cases
 Adult psychiatric patients with intellectual disability and catatonia recruited from an inpatient unit in the St-Camillus Psychiatric Hospital (Bierbeek, Belgium) from January 2005-January 2015
 15
 Cases diagnosed with intellectual disability (ID) and catatonia (DSM-5 criteria)
 Adult
 N/A
 3000000
 0
 1
 1
 bremer_11_ASD_discovery_cases
 223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
 223
 25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
 
 71.3% Male
 2600000
 0
 1
 1
 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
 2700000
 1
 4
 5
 chen_14_ASD/ID_discovery_cases
 13-year-old female patient with an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12)(q24.3;p11.2)dn.
 1
 Diagnosis of ASD (according to DSM-IV criteria); case also presented with intellectual disability (IQ of 50)
 13 yrs.
 Female
 367000
 0
 1
 1
 chen_16_ASD_discovery_cases
 ASD probands screened for 22q11.2 CNVs
 335
 Cases diagnosed with ASD based on DSM-IV and confirmed by ADI-R. Autistic symptoms reported by parents on Social Communication Questionnaire (SCQ) and Social Responsive Scale (SRS). Cognitive function assessed with Wechsler Intelligence Scale for Children-Third Edition (WISC-III) and Wisconsin Card Sorting Test.
 Mean age, 9.39 4.04 yrs.
 89.3% Male
 2970000
 1
 1
 2
 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
 2971000
 1
 2
 3
 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
 2500000
 2
 2
 4
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 2200000
 0
 2
 2
 chung_11_ASD_discovery_cases
 Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
 1
 ASD (ADI-R and ADOS, Module 3)
 12
 Female
 258557
 0
 1
 1
 dale_17_ASD_discovery_cases
  NA NA
 A 10-year-old male ASD proband with a double duplication of the 22q11.21 locus whose parents and two siblings each have a single 22q11.21 duplication
 1
 Case diagnosed with ASD and learning disability
 10 years
 Male
 2730000
 0
 2
 2
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 1088396
 0
 1
 1
 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
 2520573
 8
 0
 8
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 29000
 1
 0
 1
 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
 2578170
 5
 23
 28
 fan_19_ASD_discovery_cases
  NA NA
 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
 2882000
 2
 0
 2
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 2991275
 3
 1
 4
 gannon_11_ASD/DD_discovery_cases
 Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
 187
 Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
 Mean age, ~44 mos.
 ~82% Male
 NA
 0
 1
 1
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
 18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications
 18
 7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).
 Average, 9.9 years
 66.67% Male
 2332546
 1
 0
 1
 girirajan_11_ASD_discovery_cases
 ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
 336
 Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
 
 
 2534025
 2
 20
 22
 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
 
 
 1270000
 175
 87
 262
 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
 3150000
 5
 0
 5
 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
 3150000
 96
 0
 96
 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
 779156
 0
 11
 11
 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
 7682
 0
 5
 5
 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
 7682
 0
 4
 4
 griswold_12_ASD_discovery_cases
 Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
 813
 Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
 Range, 3-21 yrs.
 NA
 299875
 0
 1
 1
 guilherme_14_DD/EP/ASD_discovery_cases
 Patients with deletions in ring chromosome 22
 5
 Four cases with developmental delay (with or without epilepsy/seizures); one case with autism (DSM-IV criteria) and epilepsy
 Range, 1-24 yrs.
 40% Male
 1400000
 1
 0
 1
 hodge_13_DD/ID/ASD_discovery_cases
 Previously unpublished patients with 2q23.1/MBD5 microdeletions from the Mayo Clinic Cytogenetics Laboratory (cases 1-8), the Greenwood Genetic Center (cases 9-12), Pathology Associates Medical Laboratories (cases 13-14), Virginia Commonwealth University (case 15), Fullerton Genetics Center (case 16), and Boston Children's Hospital (case 17)
 17
 Phenotypes typically associated with 2q23.1 microdeletion syndrome (developmental delay/intellectual disability (DD/ID), ASD or autistic features, etc.). Two cases with bipolar disorder, one case with behavioral regression.
 Range, <1 yr.-44 yrs.
 52.94% Male
 773000
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 2533487
 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
 2540000
 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
 3211541
 104
 47
 151
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 118619
 1
 1
 2
 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
 3200000
 1
 1
 2
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 104075
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 2737249
 4
 4
 8
 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
 2372671
 0
 5
 5
 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
 3228110
 15
 0
 15
 leblond_19_ASD_discovery_cases
 Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
 36
 All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
 N/A
 77.78% Male
 2682340
 1
 0
 1
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 107817
 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
 2690000
 0
 4
 4
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 1443754
 3
 1
 4
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders: 1619 cases from Alberta Children's Hospital; 14,847 cases from Brain and Body Genetic Resource Exchange (BBGRE) database; 7320 cases from Boston Children's Hospital; 3552 cases from Credit Valley Hospital; 7411 cases from the Hospital for Sick Children; 6626 c
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 2491190
 1
 0
 1
 li_18_ASD_discovery_cases
 Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
 13
 Diagnosis of ASD made according to DSM-IV
 Mean age, 4.56 0.97 years
 92.31% Male
 238584
 0
 1
 1
 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
 2541000
 4
 2
 6
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 2771300
 1
 1
 2
 mulle_13_SCZ_discovery_cases_1
 SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
 554
 Diagnosis of schizophrenia based on meeting DSM-IV citeria
 N/A
 N/A
 3139786
 3
 0
 3
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 142683
 1
 0
 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
 305000
 1
 2
 3
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 3011674
 4
 3
 7
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 115673
 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
 
 
 2580000
 1
 7
 8
 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
 2537994
 1
 3
 4
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 172605
 0
 2
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 2868041
 4
 3
 7
 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
 3154118
 3
 5
 8
 reinthaler_14_EP_discovery_cases
 Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
 281
 Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
 N/A
 58.72% Male
 3100000
 0
 2
 2
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 3100000
 3
 1
 4
 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
 
 
 2373401
 4
 6
 10
 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
 185623
 0
 2
 2
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 1439985
 13
 45
 58
 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
 2844000
 3
 1
 4
 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
 2883000
 1
 0
 1
 speevak_11_DD_discovery_cases
 Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay
 1
 Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.
 4.5 yrs.
 Male
 206900
 0
 2
 2
 stamouli_18_ASD/NDD_discovery_cases
  NA NA
 Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
 N/A
 N/A
 56354
 0
 1
 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
 2490000
 1
 0
 1
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 2799900
 0
 2
 2
 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
 3266332
 0
 1
 1
 tropeano_13_DD/ASD_discovery_cases
 Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).
 10397
 Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.
 N/A
 63.4% Male
 3609098
 0
 1
 1
 tropeano_16_ASD_discovery_cases
 ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)
 90
 Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.
 Adult age (20 yrs.+)
 N/A
 2901783
 4
 1
 5
 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)
 
 2800000
 3
 1
 4
 wang_10_ASD_discovery_cases
 ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
 103
 ASD (according to DSM-IV criteria)
 Mean, 21.5 10.3
 78.6% Male
 923000
 0
 0
 0
 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
 1804122
 0
 1
 1
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 2584567
 5
 1
 6
 woodward_19_ASD/DD/ID_discovery_cases
  NA NA
 Individuals with atypical nested 22q11.21 duplications between LCR22B and LCR22D presenting with neurodevelopmental phenotypes
 9
 7 individuals were formally diagnosed with ASD, while 2 others presented with autistic features; developmental delay and/or intellectual disability were observed in 8/9 individuals.
 Range, 5 yrs. 1 mo.-16 yrs.
 77.78% Male
 730000
 0
 9
 9
 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
 3000000
 1
 1
 2
 ye_12_ASD/BPD/MDD/SCZ_discovery_cases
 Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH
 486
 Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193
 Mean age of ASD cases, 29.8 yrs; mean age of all other cases, ~ 47 yrs.
 54.9% Male
 2700000
 1
 1
 2
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 1869512
 3
 4
 7
 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
 2924499
 0
 3
 3
 zhou_19_ASD_discovery_cases
 ASD probands from families recruited from training centers in Beijing and Tsingdao, China
 539
 Cases were diagnosed for ASD by ADI-R and ADOS
 4.92 1.20 years
 87.38% Male
 215000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 ahn_13_SCZ_discovery_controls
 Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
 98
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 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
 225000
 0
 9
 9
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 2200000
 0
 0
 0
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 1435512
 2
 24
 26
 girirajan_11_ASD_discovery_controls
 Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
 337
 Control. Individuals screened specifically for eight mental health disorders.
 
 
 212256
 0
 1
 1
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 1270000
 0
 5
 5
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 N/A
 N/A
 N/A
 N/A
 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
 201596
 2
 10
 12
 glessner_09_ASD_discovery_controls
 Controls
 1409
 Controls
 
 
 7682
 0
 0
 0
 glessner_09_ASD_replication_controls
 Controls
 1110
 Controls
 
 
 7682
 0
 0
 0
 griswold_12_ASD_discovery_controls
 Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
 592
 Control
 Range, preterm-21 yrs.
 NA
 299875
 NA
 NA
 NA
 itsara_10_ASD_discovery_controls_2
 Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
 386
 Children with mild-to-moderate asthma
 Range, 5-17 yrs.
 
 2497006
 2
 0
 2
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 2849789
 0
 5
 5
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 726039
 1
 2
 3
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 15177
 0
 1
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 2830600
 4
 2
 6
 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
 2359870
 0
 1
 1
 leppa_16_ASD_discovery_controls
 Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 572
 Control
 N/A
 N/A
 700000
 0
 2
 2
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 157144
 1
 1
 2
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 mulle_13_SCZ_discovery_controls_1
 Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
 1014
 Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 0
 0
 0
 0
 poultney_13_ASD_discovery_controls
 Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
 260
 Control
 N/A
 47.49% Male (before filtering)
 1223017
 0
 4
 4
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 2868041
 0
 0
 0
 reinthaler_14_EP_discovery_controls
 Unscreened population controls
 1512
 Control
 N/A
 49.93% Male
 3100000
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 308829
 10
 22
 32
 stamouli_18_ASD/NDD_discovery_controls
  NA NA
 Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
 100 twin pairs
 Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
 N/A
 N/A
 56354
 0
 1
 1
 tropeano_13_DD/ASD_discovery_controls
 Controls comprehensively screened for a lifetime absence of psychiatric disorder (n=459) and from the Wellcome Trust Case-Control Consortium Phase II (WTCCC2; n=5,619), as well as control data from two previously published studies by Shaikh et al. (n=2026) and Cooper et al. (n=3173)
 11277
 Control
 N/A
 N/A
 N/A
 N/A
 N/A
 N/A
 wang_10_ASD_discovery_controls
 Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
 203
 Controls
 Mean, 32.5 8.06
 71.9% Male
 923000
 0
 2
 2
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 1869512
 0
 0
 0
 zhou_19_ASD_discovery_controls
 Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
 512
 Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
 29.77 9.12 years
 76.17% Male
 N/A
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 ahn_13_SCZ_discovery_cases
  N/A
 Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
 PennCNV, QuantiSNP, GNOSIS
 Illumina GenomeStudio, CNVision, Nexus copy number
 array SNP, aCGH, qPCR
 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
 bartnik_12_EP_discovery_cases
  Poland
 aCGH
  Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
 
 BCM web-based software, IMiD-web2py
 FISH
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 breckpot_16_ID/catatonia_discovery_cases
  Belgium
 aCGH
  OGT CytoSure ISCA
 
 
 None
 bremer_11_ASD_discovery_cases
  Swedish
 aCGH
  BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
 
 
 MLPA, FISH
 ceylan_18_DD/ID_discovery_cases
  Turkish
 Array SNP
  Affymetrix CytoScan Optima
 
 ChAS v.3.1
 MLPA
 chen_14_ASD/ID_discovery_cases
  Taiwan
 aCGH
  NimbleGen ISCA Plus
 
 Nexus 6.1
 None
 chen_16_ASD_discovery_cases
  Taiwan
 Array SNP
  Affymetrix 6.0
 
 
 qPCR
 chen_17_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 RT-qPCR
 chong_14_DD/ID/ASD/MCA_discovery_cases
  Chinese
 aCGH
  High-resolution 180K oligoarray
 
 
 aCGH (NimbleGen)
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 chung_11_ASD_discovery_cases
  Scottish-Canadian
 Array SNP
  Affymetrix 6.0
 HMM
 Affymetrix Genotyping Console v.2.1, Birdseed v.2
 
 dale_17_ASD_discovery_cases
  Caucasian
 CMA
  Platform N/A
 
 
 FISH
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 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
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 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
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gannon_11_ASD/DD_discovery_cases
  Gulf Coast of Alabama, Mississippi, & Florida
 aCGH
  Genome-wide oligo array with 44K platform
 
 
 None
 gillentine_16_ASD/ADHD/DD/ID_discovery_cases
  N/A
 CMA
  Platform N/A
 
 
 None
 girirajan_11_ASD_discovery_cases
 
 aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
 HMM
 
 None
 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
 
 None
 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
 griswold_12_ASD_discovery_cases
  Range of self-reported ethnicities (specifics NA)
 Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
 Penn CNV, QuantiSNP
 BeadStudio
 qPCR
 guilherme_14_DD/EP/ASD_discovery_cases
  Brazil
 Karyotyping, solid phase hybridization, array SNP
  Illumina Quad610, Affymetrix Genome-Wide Nsp/Sty 6.0
 
 
 FISH
 hodge_13_DD/ID/ASD_discovery_cases
  N/A
 aCGH, array SNP
  Agilent 180K, Agilent 44K, Agilent 105K, Oxford Gene Technology Plus 105K, Affymetrix 6.0, Affymetrix Cytoscan HD
 
 
 None
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 None
 kim_18_DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 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
 leblond_19_ASD_discovery_cases
  Faroe Islands
 Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
 PennCNV, QuantiSNP
 XHMM
 SnipPeep and XHMM plot visualizations
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 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
 None
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 aCGH (Agilent 244K)
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 li_18_ASD_discovery_cases
  Chinese
 Low-coverage WGS
  Illumina HiSeq 2000 or 2500 analyzers
 PSCC
 
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 mulle_13_SCZ_discovery_cases_1
  Ashkenazi Jewish
 Array SNP
  Affymetrix 6.0
 GLAD, GADA, BEAST
 Affymetrix power tools software v1.12.0
 Solid phase hybridization
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 PCR
 oikonomakis_16_ASD_discovery_cases
  Greece
 aCGH
  Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
 
 
 None
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl, IlluminaHiSeq2000
 
 CoNIFER
 Array SNP (Affymetrix CytoScan HD)
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 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
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 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
 reinthaler_14_EP_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
 PennCNV
 Illumina Genome Viewer
 None
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 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
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 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
 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)
 speevak_11_DD_discovery_cases
  NA
 aCGH
  CytoChip 105K array
 
 BlueFuse Multi
 None
 stamouli_18_ASD/NDD_discovery_cases
  Swedish
 Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
 PennCNV, QuantiSNP, iPattern, iPsychCNV
 
 None
 stobbe_13_ASD_discovery_cases
  N/A
 aCGH
  NimbleGen CGX-3v1.0
 ADM-1
 NimbleScan 2.5, DNA Analytics 4.0
 None
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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
 tropeano_13_DD/ASD_discovery_cases
  70% Caucasian, 15% African, 15% other/mixed ancestry
 aCGH
  Agilent 60K
 
 Feature Extraction, DNA Analytics
 None
 tropeano_16_ASD_discovery_cases
  United Kingdom
 aCGH
  Agilent 60K
 ADM-2
 Agilent Feature Extraction, Agilent Genomic Workbench
 MLPA, aCGH
 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
 wang_10_ASD_discovery_cases
  Croatian
 Solid phase hybridization
  Illumina HumanHap550 BeadChip
 PennCNV
 BeadStudio
 None
 wang_18_TS_discovery_cases
  N/A
 WES
  Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
 
 CoNIFER
 None
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 woodward_19_ASD/DD/ID_discovery_cases
  N/A
 Solid phase hybridization
  Illumina Infinium HumanCytoSNP-12 BeadChip
 
 Illumina GenomeStudio, KaryoStudio v.4.1
 None
 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
 None
 ye_12_ASD/BPD/MDD/SCZ_discovery_cases
  NA
 Solid phase hybridization
  Illumina 1M Duo SNP chip
 PennCNV, QuantiSNP
 Illumina GenomeStudio V2010.1
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
 zhou_19_ASD_discovery_cases
  Han Chinese
 Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
 XHMM v.1.0
 qPCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  ahn_13_SCZ_discovery_controls
  N/A
  Solid phase hybridization
  Illumina Human or HumanOmni Beadchips
  PennCNV, QuantiSNP, GNOSIS
  Illumina GenomeStudio, CNVision, Nexus copy number
 
  chen_17_ASD_discovery_controls1
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
 
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_11_ASD_discovery_controls
 
  aCGH
  Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
  HMM
 
  None
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls1
  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
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  None
  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
 
 
  griswold_12_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
  Penn CNV, QuantiSNP
  BeadStudio
 
  itsara_10_ASD_discovery_controls_2
  Hispanic/Mexican
  Solid phase hybridization
  Illumina HumanHap550 SNP array
  HMM
  Illumina GenomeStudio
  aCGH (custom NimbleGen 12 X 135)
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
  FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  kushima_18_ASD/SCZ_discovery_controls
  Japanese
  aCGH
  NimbleGen 720K, Agilent 400K
  FASST2
  Nexus Copy Number v.9.0
  N/A
  leppa_16_ASD_discovery_controls
  N/A
  Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
  PennCNV, QuantiSNP, GNOSIS
  GenomeStudio, CNVision
  None
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  mulle_13_SCZ_discovery_controls_1
  Ashkenazi Jewish
  Array SNP
  Affymetrix 6.0
  GLAD, GADA, BEAST
  Affymetrix power tools software v1.12.0
  None
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  reinthaler_14_EP_discovery_controls
  German
  Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
  PennCNV
  Illumina Genome Viewer
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  stamouli_18_ASD/NDD_discovery_controls
  Swedish
  Solid phase hybridization
  Illumina Infinium PsychArray-24 v1.1
  PennCNV, QuantiSNP, iPattern, iPsychCNV
 
  None
  tropeano_13_DD/ASD_discovery_controls
  77% Caucasian, 8.5% African, 14.5% other/mixed ancestry
  Solid phase hybridization
  Illumina HumanHap 610-Quad (screened controls); Illumina 1M (WTCCC2 controls); Illumina HumanHap 550 (Shaikh et al. data); Illumina HumanHap 500K, 650&, and 610-Quad (Cooper et al. data)
 
 
  None
  wang_10_ASD_discovery_controls
  Croatian
  Solid phase hybridization
  Illumina HumanHap550 BeadChip
  PennCNV
  BeadStudio
  None
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None
  zhou_19_ASD_discovery_controls
  Han Chinese
  Targeted exome sequencing
  Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
 
  XHMM v.1.0
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  ahn_13_SCZ_discovery_cases-NSB_ID1220
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 18339130
 21158044
  2818915
 GRCh38
 Deletion
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID1275
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 18339130
 21393389
  3054260
 GRCh38
 Deletion
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID1804
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 18339130
 21279061
  2939932
 GRCh38
 Deletion
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID3169
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 18339130
 21443910
  3104781
 GRCh38
 Deletion
 Yes
  ahn_13_SCZ_discovery_cases-NSB_ID537
 N/A
 N/A
 Schizophrenia
 Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)
 IQ 70
 18339130
 21170959
  2831830
 GRCh38
 Deletion
 No
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00155
 N/A
 M
 Developmental delay
 Developmental delay with microcephaly, hyperactivity, long face, high arched palate, dental carries and vascular ring (Velocardiofacial Syndrome). Consanguineous parents.
 Developmental delay
 18162023
 21444618
  3282596
 GRCh38
 Deletion
 No
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case10DG0083
 N/A
 N/A
 Intellectual disability
 Intellectual disability with dysmorphic features and bronchial asthma (Velocardiofacial Syndrome). Non-consanguineous parents.
 Intellectual disability
 18339130
 20363365
  2024236
 GRCh38
 Deletion
 No
  al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case13DG0586
 N/A
 N/A
 Developmental delay
 Developmental delay with dysmorphic features, no cleft and no murmur, history of twitching on right side of face due to hypocalcaemia (Velocardiofacial Syndrome). Non-consanguineous parents.
 Developmental delay
 18162023
 21111373
  2949351
 GRCh38
 Deletion
 No
  bartnik_12_EP_discovery_cases-case4
 NA
 M
 Epilepsy
 Age of onset of epilepsy: 13 years. Seizure types/epilepsy syndrome: Juvenile myoclonic epilepsy (JME). Parental phenotype: mother with mild intellectual disability and velocardiofacial syndrome (VCFS).
 Normal IQ
 18339130
 21076885
  2737756
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case41
 3 yrs. 10 mos.
 M
 Autism and borderline DD/ID
 Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes.
 Borderline DD/ID
 18339130
 21028664
  2689535
 GRCh38
 Duplication
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case76
 4 yrs. 9 mos.
 M
 PDD-NOS and borderline DD/ID
 Autism: yes (PDD-NOS). Epilepsy: no. Dysmorphic features: yes.
 Borderline DD/ID
 18888903
 19037282
  148380
 GRCh38
 Deletion
 Yes
  breckpot_16_ID/catatonia_discovery_cases-case5
 N/A (adult)
 M
 Intellectual disability and catatonia
 Case met DSM-5 criteria for catatonia (symptoms included stupor, agitation, mutism, stereotypies, grimacing, ambitendence, perseveration, automatic obedience, mitgehen, autonomous symptoms). Behavioral/psychiatric evaluation: schizophrenia. Epilepsy/seizures: epilepsy. Dysmorphic features: none. Additional medical history: sarcoidosis, unilateral facial palsy.
 Mild intellectual disability
 18178932
 21307146
  3128215
 GRCh38
 Duplication
 No
  bremer_11_ASD_discovery_cases-case9
 9
 F
 ASD
 Non-syndromic ASD, familial case
 IQ>70
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  ceylan_18_DD/ID_discovery_cases-case20
  NA NA
 5 yrs.
 N/A
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay. Dysmorphic features: hypertelorism, blunted nose, high arched palate. Other findings: Tetralogy of Fallot.
 Intellectual disability
 18339130
 21111373
  2772244
 GRCh38
 Deletion
 Yes
  ceylan_18_DD/ID_discovery_cases-case21
  NA NA
 5 yrs.
 N/A
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay. Dysmorphic features: frontal bossing, synophrys, pytosis. Other findings: strabismus.
 Intellectual disability
 18339130
 21088994
  2749865
 GRCh38
 Duplication
 Yes
  ceylan_18_DD/ID_discovery_cases-case22
  NA NA
 11.5 yrs.
 N/A
 Loss of cognitive functioning
 Developmental milestones: no developmental delay. Dysmorphic features: no dysmorphic features.
 Loss of cognitive functioning
 18339130
 21450597
  3111468
 GRCh38
 Duplication
 Yes
  ceylan_18_DD/ID_discovery_cases-case23
  NA NA
 11 yrs.
 M
 Developmental delay and intellectual disability
 Birth/neonatal history: hospitalized during neonatal period due to high indirect bilirubinemia. Developmental milestones: developmental delay. Dysmorphic features: round face, broad nasal bridge, hypertelorism, downslanting palpebral fissures, long philtrum, overfolded helix. Other findings: patent ductus arteriosus, basillar impression and hypoplasia of clivus on T2-weighed MRI, dysmetria, dysdiadochokinesia. Growth parameters: head circumference 52 cm (25th-50th %ile), height 121 cm (< 3rd %ile), weight 25 kg (< 3rd %ile). Family history: born to consanguineous parents, each of whom carry a 22q11.21 duplication; patient's father presented without neuropsychiatric problems other than sudden irritation; patient's mother had difficulty doing arithmetic calculations; patient's sister, who carried a 22q11.21 duplication inherited from one of their parents, presented with difficulty with mathematics, some social difficulties, borderline mental disability, hypertelorism, broad nasal bridge, and downslanting palpebral fissures.
 Intellectual disability, learning disabilities
 18339130
 21067136
  2728007
 GRCh38
 Homozygous duplication
 Yes
  chen_14_ASD/ID_discovery_cases-case1
 13 yrs.
 F
 ASD and ID
 Diagnosis of ASD (according to DSM-IV criteria). Birth/neonatal history: born at term with birth weight of 3280 g. Developmental milestones: speech delay noted at age of 3 years (led to early intervention). Motor and musculoskeletal evaluation: jumping-like gait; bilateral clinodactyly of the 5th fingers, bilateral pes cavus. Behavioral/psychiatric evaluation: found to have autism at age of 8 years; emotional instability, behavior problems. Other features: difficulty in self-care of menstruation. Dysmorphic features: microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease. Growth parameters: height of 161 cm, weight of 61 kg, and head circumference of 54.3 cm. Karyotype: apparently balanced reciprocal translocation [46,XX,t(8;12)(q24.3;p11.2)dn] identified at age of 8 years. Family history: healthy parents with normal karyotypes; 23-year-old mother and 25-year-old father at time of birth.
 Intellectual disability and cognitive impairment (IQ score of 50); enrolled in special school for children with intellectual disability.
 18657470
 19024306
  367000
 GRCh37
 Duplication
 No
  chen_16_ASD_discovery_cases-probandU-801
 13.9 yrs.
 M
 ASD
 Case diagnosed with ASD based on DSM-IV and confirmed by ADI-R (clinical diagnosis of Asperger's syndrome). ADI-R assessment (current score/most severe at age of 4-5 years): qualitative abnormalities in reciprocal social interaction, 11/27 (cut-off score of 10); qualitative abnormalities in communication, 6/12 (cut-off score of 8); restricted, repetitive, and stereotyped patterns of behavior, 3/5 (cut-off score of 3). Social Responsive Scale assessment (Raw score/t score): social communication, 46/94.90; stereotyped behaviors/interests, 23/87.93; social awareness, 24/62.99; social emotion, 15/72.56; total score, 108/88.23. Social Communication Questionnaire assessment: social interaction subscale score of 15, repetitive behavior score of 2, communication subscale score of 2, total score of 18 (cut-off score is 15). Brain imaging: increased volume in the left cingulate gyrus across rostral and caudal anterior, isthmus, and posterior parts; decreased volumes in the right cingulate gyrus except for rostral anterior cingulate compared to typically developing controls. Family history: both parents and unaffected female sibling (U-804) are negative for the 22q11.2 duplication.
 Wechsler Intelligence Scale for Children-Third Edition (WISC-III) assessment: verbal IQ of 120 (91st %ile), performance IQ of 112 (79th %ile), full-scale IQ of 117 (87th %ile). Wisconsin Card Sorting Test assessment: total errors score of 10 (95th %ile), perseverative response score of 5 (97th %ile), perseverative errors score of 5 (96th %ile), nonperseverative errors score of 5 (88th %ile), conceptual level responses score of 61 (88th %ile).
 18640000
 21610000
  2970000
 Unknown
 Duplication
 Yes
  chen_16_ASD_discovery_cases-probandU-830
 13.8 yrs.
 M
 ASD, ID, and epilepsy
 Case diagnosed with ASD based on DSM-IV and confirmed by ADI-R (clinical diagnosis of autistic disorder). ADI-R assessment (current score/most severe at age of 4-5 years): qualitative abnormalities in reciprocal social interaction, 11/23 (cut-off score of 10); qualitative abnormalities in communication, 8/20 (cut-off score of 8); restricted, repetitive, and stereotyped patterns of behavior, 9/10 (cut-off score of). Social Responsive Scale assessment (Raw score/t score): social communication, 42/89.91; stereotyped behaviors/interests, 21/83.52; social awareness, 18/53.97; social emotion, 11/62.11; total score, 92/79.55. Social Communication Questionnaire assessment: social interaction subscale score of 12, repetitive behavior score of 9, communication subscale score of 4, total score of 24 (cut-off score is 15). Epilepsy/seizures: epilepsy at 8 months of age. Brain imaging: increased volume of bilateral cingulate gyrus compared to typically developing controls. Family history: both parents and sister diagnosed with PDD-NOS were negative for 22q11.2 deletion.
 Diagnosed with intellectual disability at age of 5 years. Wechsler Intelligence Scale for Children-Third Edition (WISC-III) assessment: verbal IQ of 70 (2nd %ile), performance IQ of 48 (<0.1st %ile), full-scale IQ of 55 (0.1st %ile). Wisconsin Card Sorting Test assessment: total errors score of 95 (<1st %ile), perseverative response score of 62 (1st %ile), perseverative errors score of 52 (1st %ile), nonperseverative errors score of 43 (2nd %ile), conceptual level responses score of 3 (<1st %ile).
 19020000
 21610000
  2090000
 Unknown
 Deletion
 Yes
  chen_17_ASD_discovery_cases-caseU-1994
 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 7 (past score 11); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 9); Qualitative abnormalities in nonverbal communication, current score 0 (past score 5); Restricted, repetitive, and stereotyped patterns of behaviour, current score 2 (past score 2); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 129; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 42. Epilepsy: no history of epilepsy.
 Performance IQ 94, Verbal IQ 116, Full-scale IQ 106
 18794021
 19019471
  225451
 GRCh38
 Duplication
 Yes
  chen_17_ASD_discovery_cases-caseU-801
 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 11 (past score 27); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 12); Qualitative abnormalities in nonverbal communication, current score 5 (past score 11); Restricted, repetitive, and stereotyped patterns of behaviour, current score 3 (past score 5); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 108; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 18. Epilepsy: no history of epilepsy.
 Performance IQ 112, Verbal IQ 120, Full-scale IQ 117
 18157533
 21257048
  3099516
 GRCh38
 Duplication
 Yes
  chen_17_ASD_discovery_cases-caseU-830
 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 11 (past score 23); Qualitative abnormalities in verbal and nonverbal communication, current score 8 (past score 20); Qualitative abnormalities in nonverbal communication, current score 1 (past score 10); Restricted, repetitive, and stereotyped patterns of behaviour, current score 9 (past score 10); Abnormality of development evident at or before 36 months, past score 5. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 92; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 23. Epilepsy: diagnosis of epilepsy.
 Performance IQ 48, Verbal IQ 70, Full-scale IQ 55
 18339130
 21257048
  2917919
 GRCh38
 Deletion
 Yes
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1104
 N/A
 M
 Developmental delay
 Developmental delay, dysmorphic features. Family history: none reported.
 Developmental delay
 18339130
 21003834
  2664705
 GRCh38
 Duplication
 Yes
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1678
 N/A
 M
 DD and autistic features
 Mild developmental delay, autistic, dysmorphic features. Family history: none reported.
 Mild developmental delay
 18339130
 21003693
  2664564
 GRCh38
 Duplication
 Yes
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH3712
 N/A
 M
 Developmental delay
 Moderate developmental delay, multiple congenital anomalies (MCA), dysmorphic features. Family history: none reported.
 Moderate developmental delay
 18339130
 21003834
  2664705
 GRCh38
 Deletion
 Yes
  chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4349
 N/A
 M
 Developmental delay
 Severe developmental delay, dysmorphic features, hypothyroidism. Family history: spontaneous twin with hypothyroidism and delay (presence of 22q11.21 deletion in this individual N/A).
 Severe developmental delay
 18339130
 21107640
  2768511
 GRCh38
 Deletion
 Yes
  christian_08_ASD_discovery_cases-AU001804
 NA
 M
 ASD
 NA
 NA
 18339130
 20988591
  2649462
 GRCh38
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU004903
 NA
 F
 ASD
 NA
 NA
 18339130
 20988591
  2649462
 GRCh38
 Duplication
 Yes
  chung_11_ASD_discovery_cases-proband
 12
 F
 ASD
 Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
 WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
 18760915
 19019471
  258557
 GRCh38
 Duplication
 No
  dale_17_ASD_discovery_cases-case1
  NA NA
 10 yrs.
 M
 ASD and learning disability
 Case diagnosed with ASD at age of 6 years. Birth/neonatal history: unremarkable pregnancy; delivery was induced at 36.5 weeks gestation due to oligohydramnios of unknown cause; birth weight 2353 g (10th %ile). Developmental milestones: mild delay in independent walking (18 months); more significant delay in expressive speech (first clear words at around 3.5 years). Behavioral/psychiatric evaluation: elevated scores on inattention, hyperactivity, and impulsivity; moderate deficits in reciprocal social behavior (SRS-2); Social Communication Questionnaire (SCQ) score of 11; no concerns for anxiety or depression. Cardiac evaluation: mild pulmonary valve stenosis noted on echocardiogram. Visual evaluation: exotropia. Dysmorphic features: hooded eyelids, epicanthal folds, widely spaced eyes, long philtrum, flat philtrum, thin upper lip vermillion, bilateral preauricular ear pits. Growth parameters: weight 25th %ile, height 25th %ile, BMI 25th %ile, and head circumference 25th %ile at age of 7 years. Family history: first child born to a non-consanguineous Caucasian couple from South Africa; proband's father with 2.73 Mb 22q11.21 duplication presented with left preauricular ear pit, long philtrum, flat philtrum, wide uvula, average overall intellectual functioning and academic skills, and mild symptoms of depression and anxiety; proband's mother with 2.55 Mb 22q11.21 duplication presented with average verbal reasoning scores and low-average non-verbal reasoning scores, as well as mild symptoms of depression and anxiety; proband has two sisters (monozygotic twins with one 22q11.21 duplication) presenting with bilateral preauricular ear pits, average overall intellectual abilities and academic skills, and clinically elevated symptoms of social anxiety.
 Learning disability [superior verbal reasoning (91st %ile), average non-verbal reasoning (27th %ile), extremely low processing speed (2nd %ile), and low-average working memory (9th %ile) on WISC-IV subtests; borderline basic reading (3rd %ile) and average math reasoning (27th %ile) on WJ-III]; evaluation using Vineland Adaptive Behavior Scales (VABS-II) revealed average daily living scores (50th %ile) and below average communication (12th %ile) and socialization (9th %ile) scores.
 18339130
 21086226
  2747097
 GRCh38
 Duplication
 Yes
  dale_17_ASD_discovery_cases-case1
  NA NA
 10 yrs.
 M
 ASD and learning disability
 Case diagnosed with ASD at age of 6 years. Birth/neonatal history: unremarkable pregnancy; delivery was induced at 36.5 weeks gestation due to oligohydramnios of unknown cause; birth weight 2353 g (10th %ile). Developmental milestones: mild delay in independent walking (18 months); more significant delay in expressive speech (first clear words at around 3.5 years). Behavioral/psychiatric evaluation: elevated scores on inattention, hyperactivity, and impulsivity; moderate deficits in reciprocal social behavior (SRS-2); Social Communication Questionnaire (SCQ) score of 11; no concerns for anxiety or depression. Cardiac evaluation: mild pulmonary valve stenosis noted on echocardiogram. Visual evaluation: exotropia. Dysmorphic features: hooded eyelids, epicanthal folds, widely spaced eyes, long philtrum, flat philtrum, thin upper lip vermillion, bilateral preauricular ear pits. Growth parameters: weight 25th %ile, height 25th %ile, BMI 25th %ile, and head circumference 25th %ile at age of 7 years. Family history: first child born to a non-consanguineous Caucasian couple from South Africa; proband's father with 2.73 Mb 22q11.21 duplication presented with left preauricular ear pit, long philtrum, flat philtrum, wide uvula, average overall intellectual functioning and academic skills, and mild symptoms of depression and anxiety; proband's mother with 2.55 Mb 22q11.21 duplication presented with average verbal reasoning scores and low-average non-verbal reasoning scores, as well as mild symptoms of depression and anxiety; proband has two sisters (monozygotic twins with one 22q11.21 duplication) presenting with bilateral preauricular ear pits, average overall intellectual abilities and academic skills, and clinically elevated symptoms of social anxiety.
 Learning disability [superior verbal reasoning (91st %ile), average non-verbal reasoning (27th %ile), extremely low processing speed (2nd %ile), and low-average working memory (9th %ile) on WISC-IV subtests; borderline basic reading (3rd %ile) and average math reasoning (27th %ile) on WJ-III]; evaluation using Vineland Adaptive Behavior Scales (VABS-II) revealed average daily living scores (50th %ile) and below average communication (12th %ile) and socialization (9th %ile) scores.
 18339130
 21086226
  2747097
 GRCh38
 Duplication
 Yes
  davis_09_ASD_discovery_cases-AU1334302
 NA
 NA
 Syndromic ASD
 Diagnosis: broad spectrum autism. Syndromic autism features: micropthalmia. Family history: father diagnosed with depression, anxiety disorder, and ADHD.
 
 18697765
 19786161
  1088396
 Unknown
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_262738
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 20604697
 21028664
  423968
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299976
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299978
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300530
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300603
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 21444416
 22574173
  1129758
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300629
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 Incorrect CNV coordinates were provided in the report
 
 20379187
 21151128
  771942
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300741
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 20400132
 21086225
  686094
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_301143
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  egger_14_ASD_discovery_cases-caseA38
 14 yrs. (born 2000)
 F
 ASD
 Diagnosis: high functioning autism. Co-morbidities/additional features: none reported. Family history: none reported. CNV: no overlapping calls in 2,357 POPGEN and OHI controls, 100% overlap in DGV.
 Normal IQ (IQ 91)
 19205086
 19233883
  28798
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case1195_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18679463
 19051539
  372076
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14230_3640
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20379205
 21109441
  730237
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16074_1571042001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18339130
 21109441
  2770312
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case17015_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18890274
 20330249
  1439976
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case17015_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20367174
 21111491
  744318
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case1763_311
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18679463
 19051464
  372001
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3067_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20367174
 21111491
  744318
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3126_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18692668
 19051539
  358871
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3127_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18339130
 21109441
  2770312
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3183_7
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18339130
 21135629
  2796500
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case3205_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18692668
 19051539
  358871
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4271_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18339130
 21111491
  2772362
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case5039_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18688800
 19051539
  362739
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5222_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18688800
 19051539
  362739
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5261_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18339130
 21111491
  2772362
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5268_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18688800
 19051539
  362739
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5291_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18688800
 19051464
  362664
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5378_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20379205
 20674658
  295454
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5397_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18688800
 19051539
  362739
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5510_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 17051550
 17388108
  336558
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5559_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20175547
 20229281
  53735
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6021_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 17051550
 17388108
  336558
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6125_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20367174
 21109441
  742268
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6242_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18710895
 19013371
  302476
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18688800
 19051539
  362739
 NCBI36
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6340_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 21562901
 21593355
  30455
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8627_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 18339130
 21109441
  2770312
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case8703_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19907019
 19951573
  44555
 GRCh38
 Deletion
 No
  fan_19_ASD_discovery_cases-caseASD017
  NA NA
 6 yrs. 10 mos.
 M
 ASD
 CARS score 34 (mild severity)
 
 18339130
 21444618
  3105489
 GRCh38
 Deletion
 No
  fan_19_ASD_discovery_cases-caseASD419
  NA NA
 5 yrs.
 F
 ASD
 CARS score 33.5 (mild severity)
 
 18162024
 19911623
  1749600
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER259106
 N/A
 F
 Developmental delay
 Sparse scalp hair; Fragile nails; Abnormality of limb bone morphology; Alopecia of scalp; High palate; Global developmental delay; Global developmental delay; Abnormality of the heart
 
 18339130
 21109830
  2770701
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260134
 N/A
 F
 Seizures
 Agenesis of corpus callosum; Periventricular gray matter heterotopia; Seizures; Frontal bossing; Eczema
 
 18339130
 21476273
  3137144
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260575
 N/A
 F
 Developmental delay
 Abnormality of the nervous system; Dysphagia; Abnormality of the palpebral fissures; Inverted nipples; Redundant skin; Global developmental delay
 
 18339130
 21109830
  2770701
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262138
 N/A
 F
 Learning disability
 Specific learning disability; Congenital hypothyroidism; Abnormality of metabolism/homeostasis; Rhabdomyolysis; Cardiomyopathy
 
 18339130
 21109830
  2770701
 GRCh38
 Deletion
 No
  gannon_11_ASD/DD_discovery_cases-patientV
 
 
 ASD and/or DD
 Dysmorphic features: unknown
 IQ unknown
 NA
 NA
  NA
 Unknown
 Duplication
 No
  gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7
 14 yrs.
 M
 Speech delay
 Case did not meet cutoff scores in all behavioral areas on ADI-R but was classified as being on the autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, speech delay, dysmorphic features. Developmental milestones: N/A. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 0.32th %ile, weight 3.03th %ile, OFC 5th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
 Full scale ratio IQ (DAS-II): 53.
 18339130
 21095622
  2756493
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si123
 11
 M
 Autism
 ADOS score: 7. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 73; Verbal IQ, 87; Non-verbal IQ, 68.
 18339130
 21116264
  2777135
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si149
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 74.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 131; Non-verbal IQ, 112.
 18599601
 18748556
  148955
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si19
 8
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 96; Verbal IQ, 101; Non-verbal IQ, 95.
 20168777
 20313060
  144284
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si193
 8
 M
 Autism
 ADOS score: 8. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 84; Non-verbal IQ, 106.
 18907030
 19019954
  112925
 GRCh38
 Deletion
 No
  girirajan_11_ASD_discovery_cases-Si20
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 123; Non-verbal IQ, 101.
 18536300
 18748556
  212256
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si206
 13
 M
 Autism
 ADOS score: 8. Vineland composite score: 101.
 No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 114; Non-verbal IQ, 119.
 18536300
 18748556
  212256
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si207
 7
 M
 Autism
 ADOS score: 7. Vineland composite score: 91.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 113; Non-verbal IQ, 111.
 18562002
 18748556
  186554
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si208
 14
 M
 Autism
 ADOS score: 4. Vineland composite score: 61.
 No mental retardation/intellectual disability. Full-scale IQ, 117; Verbal IQ, 84; Non-verbal IQ, 132.
 18603026
 18748556
  145530
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si209
 13
 M
 Autism
 ADOS score: 6. Vineland composite score: 90.
 No mental retardation/intellectual disability. Full-scale IQ, 129; Verbal IQ, 120; Non-verbal IQ, 128.
 18536300
 18748556
  212256
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si22
 6
 M
 Autism
 ADOS score: 8. Vineland composite score: 89.
 No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 104; Non-verbal IQ, 111.
 20168777
 20323613
  154837
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si229
 11
 F
 Autism
 ADOS score: 9. Vineland composite score: 69.
 Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.
 18890825
 19019954
  129130
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si246
 18
 M
 Autism
 ADOS score: NA. Vineland composite score: 59.
 No mental retardation/intellectual disability. Full-scale IQ, 119; Verbal IQ, 117; Non-verbal IQ, 118.
 18536300
 18748556
  212256
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si250
 15
 M
 Autism
 ADOS score: 6. Vineland composite score: 66.
 Moderate mental retardation/intellectual disability. Full-scale IQ, 47; Verbal IQ, 60; Non-verbal IQ, 39.
 18559232
 18748556
  189324
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si255
 6
 M
 Autism
 ADOS score: 5. Vineland composite score: 88.
 No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 99; Non-verbal IQ, 101.
 18890825
 19043451
  152627
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si309
 8
 M
 Autism
 ADOS score: 9. Vineland composite score: 65.
 Mild mental retardation/intellectual disability. Full-scale IQ, 57; Verbal IQ, 51; Non-verbal IQ, 65.
 18599601
 18748556
  148955
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si318
 12
 M
 Autism
 ADOS score: 7. Vineland composite score: 68.
 No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.
 18565059
 18748556
  183497
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si35
 17
 M
 Autism
 ADOS score: 8. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 97; Verbal IQ, 96; Non-verbal IQ, 98.
 20168777
 20313060
  144284
 GRCh38
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si45
 9
 M
 Autism
 ADOS score: 7. Vineland composite score: 86.
 No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 95; Non-verbal IQ, 131.
 18562002
 18748556
  186554
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si57
 11
 M
 Autism
 ADOS score: 6. Vineland composite score: 83.
 No mental retardation/intellectual disability. Full-scale IQ, 114; Verbal IQ, 117; Non-verbal IQ, 111.
 18603026
 18748556
  145530
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si8
 16
 M
 Autism
 ADOS score: 7. Vineland composite score: 66.
 No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 93; Non-verbal IQ, 91.
 18536300
 18748556
  212256
 NCBI36
 Duplication
 No
  girirajan_11_ASD_discovery_cases-Si86
 17
 F
 Autism
 ADOS score: 10. Vineland composite score: 53.
 Severe mental retardation/intellectual disability. Full-scale IQ, 26; Verbal IQ, 19; Non-verbal IQ, 29.
 18907030
 19019954
  112925
 GRCh38
 Duplication
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case1593
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1594
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1595
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1596
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1597
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1598
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1599
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1600
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1601
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1602
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1603
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1604
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1605
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1606
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1607
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1608
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1609
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1610
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1611
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1612
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1613
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1614
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1615
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1616
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1617
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1618
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1619
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1620
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1621
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1622
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1623
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1624
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1625
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1626
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1627
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1628
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1629
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1630
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1631
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1632
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1633
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1634
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1635
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1636
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1637
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1638
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1639
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1640
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1641
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1642
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1643
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1644
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1645
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1646
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1647
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1648
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1649
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1650
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1651
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1652
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1653
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1654
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1655
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1656
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1657
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1658
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1659
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1660
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1661
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1662
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1663
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1664
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1665
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1666
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1667
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1668
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1669
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1670
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1671
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1672
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1673
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1674
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1675
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1676
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1677
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1678
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1679
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1680
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1681
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1682
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1683
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1684
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1685
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1686
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1687
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1688
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1689
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1690
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1691
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1692
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1693
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1694
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1695
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1696
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1697
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1698
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1699
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1700
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1701
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1702
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1703
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1704
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1705
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1706
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1707
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1708
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1709
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1710
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1711
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1712
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1713
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1714
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1715
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1716
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1717
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1718
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1719
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1720
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1721
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1722
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1723
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1724
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1725
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1726
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1727
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1728
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1729
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1730
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1731
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1732
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1733
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1734
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1735
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1736
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1737
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1738
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1739
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1740
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1741
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1742
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1743
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1744
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1745
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1746
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1747
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1748
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1749
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1750
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1751
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1752
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1753
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1754
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1755
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1756
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1757
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1758
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1759
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1760
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1761
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1762
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1763
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1764
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1765
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1766
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1767
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1768
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1769
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1770
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1771
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1772
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1773
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1774
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1775
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1776
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1777
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1778
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1779
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1780
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1781
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1782
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1783
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1784
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1785
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1786
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1787
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1788
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1789
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1790
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1791
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1792
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1793
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1794
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1795
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1796
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1797
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1798
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1799
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1800
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1801
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1802
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1803
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1804
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1805
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1806
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1807
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1808
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1809
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1810
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1811
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1812
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1813
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1814
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1815
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1816
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1817
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1818
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1819
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1820
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1821
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1822
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1823
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1824
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1825
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1826
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1827
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1828
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1829
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1830
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1831
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1832
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1833
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1834
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1835
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case1836
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 NA
  girirajan_12_ASD/DD/ID_discovery_cases-case21683
 NA
 NA
 MCA
 Multiple congenital anomalies (MCA)
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case24222
 6 yrs.
 M
 Developmental delay
 Severe speech delay. Behavioral problems: ADHD, oppositional defiant disorder (ODD), autistic features. Hypotonia. Dysmorphic features: midface hypoplasia, wide central incisors. Congenital anomalies: cleft palate, velopharyngeal insufficiency , sacral dimple, triphalangeal thumbs, right aortic arch, hypospadias, umbilical hernia, small testes. Growth parameters: failure to thrive, microcephaly. Family history: mother with learning disability; maternal half sibling has congenital heart defect and contractures.
 Global developmental delay
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case25163
 2 yrs.
 M
 Developmental delay
 Mild developmental delays, hypotonia, nondysmorphic, normal height, weight, and OFC; mother with psychiatric issues and learning disability. Individual previously reported in Rosenfeld et al., 2012.
 Developmental delay
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case25870
 NA
 NA
 Developmental delay
 Dysmorphic features, seizure disorder, multiple congenital anomalies
 Developmental delay
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case31576
 26 mos.
 M
 Developmental delay
 Motor delays. Hypotonia, unsteady gait, lack of coordination. Nondysmorphic. Congenital anomalies: cystic kidney disease, vesicoureteral reflux. Other features: vertical nystagmus. Growth parameters: height 30th %ile, OFC +1.0 SD. Family history: healthy parents.
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case31898
 NA
 NA
 Developmental delay
 Dysmorphic features, seizure disorder
 Developmental delay
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case33289
 
 
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case33529
 NA
 NA
 Cardiac defects
 Aberrant subclavian artery
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case35334
 11 mos.
 M
 MCA
 No developmental delay as of yet. Normal tone. Moderate mixed hearing loss. Dysmorphic features: retrognathia, small cupped malformed right ear. Congenital anomalies: cleft palate, left clubfoot, right multicystic dysplastic kidney. Other features: exotropia. Growth parameters: weight <3rd %ile, height 3rd %ile, OFC -1.6 SD. Family history: father has cleft palate and learning disability; mother has renal problems.
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case37709
 NA
 NA
 MCA
 Multiple congenital anomalies (MCA)
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case38025
 2 mos.
 F
 MCA
 Deceased. Dysmorphic features: low-set ears with folded helices. Congenital anomalies: severe congenital heart defects (tetralogy of Fallot, absent pulmonary valve, ventricular septal defect), butterfly vertebrae, 13 rib pairs, supernumerary nipple. Family history: non-contributory.
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case38700
 2 mos.
 F
 Dysmorphic features
 Failure to thrive. No developmental delay as of yet. Normal tone. Dysmorphic features: hypertelorism, long philtrum, broad nasal bridge, prominent antihelix, epicanthal folds, ptosis, bitemporal narrowing. Congenital anomalies: patent ductus arteriosus. Growth parameters: height <3rd %ile, OFC <3rd %ile. Family history: healthy parents; two sisters with learning disability, one with patent foramen ovale.
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case40822
 NA
 M
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case51723
 3 yrs. 4 mos.
 M
 Developmental delay
 Speech delay. Normal tone. Frontal lobe atrophy, hearing loss. Dysmorphic features: micrognathia, low-set ears, blepharophimosis. Congenital anomalies: cryptorchidism. Other features: strabismus, retinopathy, astigmatism. Growth parameters: weight 97th %ile, OFC 97th %ile. Family history: healthy parents.
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case52716
 2 yrs. 3 mos.
 F
 Developmental delay
 Dysmorphic features, speech delay, small stature. Normal tone. Dysmorphic features: low-set ears, short neck, small nose, upslanting palpebral fissures, shallow nasal bridge, small mouth, micrognathia. Congenital anomalies: blocked lacrimal ducts. Other features: strabismus, chronic lung disease (prematurity). Growth parameters: height, weight, and OFC <3rd %ile. Family history: mother has bicornate uterus.
 Global developmental delay
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case60452
 NA
 NA
 Cardiac defects
 Tetralogy of Fallot (TOF), speech delay
 NA
 19032487
 20302477
  1269991
 GRCh38
 Deletion
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case60918
 NA
 NA
 Developmental delay
 Central nervous system disorder
 Mental retardation
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 Yes
  girirajan_12_ASD/DD/ID_discovery_cases-case66683
 NA
 NA
 Developmental delay
 NA
 NA
 19032487
 20302477
  1269991
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-11599.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
 19335520
 19352236
  16717
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-12239.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
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-12686.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
 19046396
 19062343
  15948
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-12878.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
 20771294
 20778274
  6981
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-13859.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
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 Yes
  girirajan_13a_DD_discovery_cases-DDcase385
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase386
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase387
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase388
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase389
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase390
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase391
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase392
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase393
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase394
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase395
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase396
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase397
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase398
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase399
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase400
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase401
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase402
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase403
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase404
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase405
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase406
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase407
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase408
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase409
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase410
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase411
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase412
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase413
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase414
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase415
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase416
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase417
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase418
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase419
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase420
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase421
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase422
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase423
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase424
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase425
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase426
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase427
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase428
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase429
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase430
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase431
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase432
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase433
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase434
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase435
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase436
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase437
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase438
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase439
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase440
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase441
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase442
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase443
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase444
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase445
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase446
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase447
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase448
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase449
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase450
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase451
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase452
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase453
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase454
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase455
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase456
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase457
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase458
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase459
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase460
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase461
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase462
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase463
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase464
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase465
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase466
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase467
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase468
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase469
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase470
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase471
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase472
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase473
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase474
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase475
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase476
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase477
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase478
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase479
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13a_DD_discovery_cases-DDcase480
 N/A
 N/A
 Developmental delay
 N/A
 N/A
 18062234
 21390711
  3328478
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-16709111253
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 20106649
 20255887
  149239
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-20005103253
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 18890825
 19007174
  116350
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-20207108119
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 18907030
 19025204
  118175
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-21907108174
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 18890825
 19025204
  134380
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-25209111475
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 20106649
 20303167
  196519
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-25807108397
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 18587980
 18748556
  160576
 NCBI36
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-29909111597
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 20168777
 20303167
  134391
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-36909111849
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 20350393
 21129550
  779158
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-36909111849
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 20724916
 20819829
  94914
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-61204102229
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
 N/A
 18890825
 19025204
  134380
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-709110652
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 20168777
 20255887
  87111
 GRCh38
 Duplication
 No
  glessner_09_ASD_discovery_cases-1159_008
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-9568374790
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-AU14203
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-C217403
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_discovery_cases-NIMH_157-1155-001_06C58406A
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU001804
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU004903
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU067403
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  glessner_09_ASD_replication_cases-AU1334302
 NA
 
 ASD
 NA
 NA
 20666976
 20674658
  7683
 GRCh38
 Duplication
 Yes
  griswold_12_ASD_discovery_cases-case17164
 NA
 NA
 ASD/autism
 NA
 NA
 20379206
 20679083
  299878
 GRCh38
 Duplication
 Yes
  guilherme_14_DD/EP/ASD_discovery_cases-case3
 1 yr.
 F
 Developmental delay
 Birth/neonatal history: born at term by C-section; birth weight of 3250 g (25th %ile), birth length of 47 cm (3rd %ile). Developmental milestones: mild motor developmental delay. Motor and musculoskeletal evaluation: hypotonia; promixal implantation of halluces. Dysmorphic features: irregular teeth, large nose, small mouth, small supernumerary nipple at left, hypertrophic clitoris (normal endocrine evaluation). Growth parmeters: weight of 9 kg (25th %ile), length of 73 cm (50th %ile), and head circumference of 47 cm (50th-98th %ile) at age of 1 year. Family history: second child of healthy non-consanguineous parents; younger brother with congenital malformations and normal karyotype.
 
 18877788
 20330895
  1400000
 Unknown
 Deletion
 Yes
  hodge_13_DD/ID/ASD_discovery_cases-case6
 <1 yr.
 M
 DD/ID/ASD
 New phenotypic features: diaphragmatic eventration, ventricular septal defect
 
 20378147
 21151128
  772982
 GRCh38
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI0322
 NA
 NA
 Autism
 NA
 NA
 18339130
 21106985
  2767856
 GRCh38
 Duplication
 Yes
  jiao_19_EP/DD/ID_discovery_cases-caseDD18002423
 9 yrs.
 Female
 Epilepsy/seizures
 Epilepsy/seizures: seizures (febrile seizures). EEG: EEG abnormality. Brain imaging: basal ganglia calcification.
 
 18339130
 21140143
  2801014
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000053
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000199
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000204
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21454720
  3115591
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000478
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000606
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20394686
 21145682
  750997
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000622
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20345217
  2006088
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000644
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 21207225
  3028269
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000705
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20671425
  2332296
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000720
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000869
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 21207225
  3028269
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000890
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18989547
 19891514
  901967
 NCBI36
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000891
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000965
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000988
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000996
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20354644
  2015515
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001045
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001047
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20726972
 21151128
  424157
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001062
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001099
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20726972
 21151128
  424157
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001106
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 20324240
  2145284
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001115
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 21151128
  2972172
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001118
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20400132
 21151128
  750997
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001187
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001211
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001220
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001231
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 21086225
  2907269
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001245
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001246
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20671425
  2332296
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001603
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18886943
 20318794
  1431852
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001754
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20363880
 21073647
  709768
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001768
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21056995
  2717866
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001771
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18902758
 20340590
  1437833
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001796
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18902758
 19012349
  109592
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001799
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18917596
 19027938
  110343
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001824
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18169870
 21559889
  3390020
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001833
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18188862
 21182552
  2993691
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001840
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21107522
  2768393
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001909
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21107522
  2768393
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001915
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20946002
 20976899
  30898
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001956
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18167908
 21101267
  2933360
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001958
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18167908
 21101267
  2933360
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001964
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18950648
 20241494
  1290847
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001995
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002006
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18950648
 20241494
  1290847
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002021
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002023
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002048
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002054
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002058
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20641963
  2302834
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002070
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002079
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20711594
 21101267
  389674
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002080
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002082
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002102
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002112
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002163
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002181
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002220
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002300
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20690750
 21101267
  410518
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002375
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002401
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002403
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20711594
 21101267
  389674
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002410
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002431
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002491
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002504
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18167908
 21101267
  2933360
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002505
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002562
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002587
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20345217
  2006088
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002612
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20345217
  2006088
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002638
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21040441
  2701312
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002640
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002649
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20379137
 21151128
  771992
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002703
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 16913254
 17322804
  409550
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002738
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21040441
  2701312
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002800
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003771
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20671425
  2332296
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003838
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20732418
 21091671
  359254
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003852
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003867
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086366
  2747237
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003914
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003915
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003936
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003982
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004011
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004017
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20726972
 21207225
  480254
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004031
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 21151128
  2972172
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004058
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 21086225
  2907269
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004072
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004091
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004093
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004106
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20726972
 21151128
  424157
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004139
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004165
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20400132
 21151128
  750997
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004178
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18177786
 21101267
  2923482
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004180
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004196
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004199
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20400132
 21151128
  750997
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004233
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18932229
 20324381
  1392153
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004278
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151269
  2812140
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004329
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21454720
  3115591
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004375
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004403
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20726972
 21207225
  480254
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004414
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004452
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004463
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004478
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004482
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20604697
 21025669
  420973
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004519
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18145252
 21151128
  3005877
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004569
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18932429
 20324240
  1391812
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004577
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20671566
  2332437
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004579
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004617
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086366
  2747237
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004672
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004698
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151269
  2812140
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004733
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004745
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 20588575
  2249446
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004783
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21454720
  3115591
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004834
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004837
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151269
  2812140
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004847
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004849
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004868
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004941
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004943
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004958
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207381
  2868252
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004977
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004998
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005006
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086366
  2747237
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005028
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18782633
 19891514
  1108881
 NCBI36
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005030
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005034
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005038
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21101267
  2762138
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005043
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005054
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005105
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21444466
  3105337
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005134
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005140
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005172
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005181
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21086225
  2747096
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005246
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21207225
  2868096
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005289
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18178957
 21086225
  2907269
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005331
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005346
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 20354600
 21053401
  698802
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005351
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18145052
 21086366
  2941315
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005355
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151269
  2812140
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005407
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21454720
  3115591
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005410
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 18339130
 21151128
  2811999
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005435