15q13.3CNV Type: Deletion-Duplication
Largest CNV size: 2000000 bp
Statistics Box:
Number of Reports: 80
Number of Reports: 80
Summary Information
Individuals with microdeletions at this locus have an increased risk for a wide range of clinical features, including autism. The CHRNA7 gene within the 15q13.3 locus may be clinically relevant in ASD pathogenesis.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental...
Deletion
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Duplication
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion-Duplication
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Duplication
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci.
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
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
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.
Duplication
Case report: Neuronal migration disorder associated with chromosome 15q13.3 duplication in a boy with autism and seizures.
Duplication
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
Duplication
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Deletion
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.
Duplication
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Deletion-Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
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.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-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.
Duplication
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion-Duplication
15q13.3 duplication in two patients with childhood-onset schizophrenia.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Duplication
Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Copy Number Variations independently induce Autism Spectrum Disorder.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Deletion
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Comorbidities associated with genetic abnormalities in children with intellectual disability
Duplication
Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7
Duplication
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Duplication
Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD
Duplication
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
475000
2
0
2
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
485656
0
3
3
bacchelli_15_ASD_discovery_cases
ASD cases screened for 15q13.3 CNVs from 133 families recruited at the Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry (Calambrone, Pisa, Italy)
135
ASD diagnosis based on ADI-R and ADOS
N/A
N/A
500000
0
1
1
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
108000
0
1
1
beal_13_ASD_discovery_cases
4-year-old male patient born to parents with no family history of seizures, autism, mental retardation, or other neurological impairments.
1
Case presented with autism, speech delay, and epilepsy/seizures
4 yrs.
Male
500000
0
1
1
ben-shacher_09_ASD_discovery_cases
Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
N/A
ASD
1600000
5
0
5
ben-shacher_09_combined_discovery_cases
Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
8200
Developmental delay, mental retardation, dysmorphic features, congenital anomalies, ASD, or general suspicion of a chromosomal anomaly
1600000
13
0
13
ben-shacher_09_non-ASD_discovery_cases
Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
N/A
Developmental delay, mental retardation, dysmorphic features, congenital anomalies, or general suspicion of a chromosomal anomaly
1600000
8
0
8
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
Unrelated Tourette syndrome (TS) patients recruited through the Herlev Tourette Clinic (Denmark)
188
Tourette syndrome (TS) with additional comorbidities, including ADHD, OCD, and ASD
N/A
81.91% Male
420000
0
1
1
budisteanu_21_ASD/DD/ID_discovery_cases
Patients with 15q13.3 duplications referred to Pediatric Neurology and Child and Adolescent Psychiatry Departments.
5
All five cases diagnosed with autism spectrum disorder according to DSM-5 criteria (diagnosis confirmed by ADOS for three patients and ADI-R for two patients); developmental delay/intellectual disability was also observed in all five individuals.
Range, 2 yrs. 4 mos.-15 yrs.
80% Male
537284
0
5
5
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
16891
1
0
1
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
400000
1
1
2
chen_21_ASD/DD/ID_discovery_cases
Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
61
Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
Range, 3-18 yrs. (median, 6 yrs.)
60.7% Male
419241
0
1
1
chilian_13_DD/ID_discovery_cases
Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.
1
Severe DD/ID, language impairment, behavioral abnormalities
5 yrs.
Male
489130
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
372000
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
489134
0
3
3
digregorio_17_DD/ID_discovery_cases
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
489000
0
5
5
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
495614
1
0
1
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
445000
1
0
1
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
16497
2
0
2
firouzabadi_16_ASD_discovery_cases
Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father
15
ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism
N/A
N/A
445000
0
1
1
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
853498
0
1
1
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
494000
0
2
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
24402
0
1
1
ghasemi_firouzabadi_16_ASD_discovery_cases
Sporadic Iranian ASD cases with no family history of ASD
50
Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features
N/A
N/A
N/A
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
441000
0
16
16
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.
436756
0
3
3
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
440000
7
130
137
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
36303
5
0
5
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
615181
0
3
3
gorker_18_ASD_discovery_cases
Individuals living in the Trakya region of Turkey with a pre-diagnosis of ASD who were referred to the Trakya University Child and Adolescent Psychiatry Department between January 2015-December 2015
53
All cases were diagnosed with ASD according to DSM-V and were further assessed using the Childhood Autism Rating Scales (CARS); 14 cases were comorbid with intellectual disability, 16 cases were comorbid with ADHD (assessed by the Conners Parent Rating Scale-Revised Short/CPRS-RS)
Mean age, 9.2 years
74.0% Male
328199
0
1
1
handrigan_13_ASD/DD/ID_discovery_cases
Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).
35
22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.
Range, 0 mos.-20 yrs.
48.57% Male
409512
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
435215
0
1
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
25000
1
0
1
hoppman-chaney_12_CHRNA7_discovery_cases
Probands from a database of >15,000 patients tested in the Mayo Clinic Cytogenetics Laboratory from 2008-2011.
10
Developmental delay, intellectual disability, ASD, ADHD, and/or other non-neuropsychiatric features
Range, 5 weeks-7 years
90% Male
NA
10
0
10
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
378584
0
1
1
kamien_14_ASD_discovery_cases
Three patients with RBFOX1 CNVs seen in clinical genetics unit (New South Wales, Australia)
3
All three cases met DSM-IV-TR criteria for ASD (autistic disorder in two cases, PDD-NOS in one case).
Range, 5-9 yrs.
66.67% Male
444000
0
1
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
537289
2
8
10
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
81000
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
81000
0
7
7
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
496055
0
1
1
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
495448
0
1
1
lintas_17_ASD_discovery_cases
ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
41
Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
N/A
87.80% Male
466297
0
3
3
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, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
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
444868
0
1
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
61250
0
1
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
484088
0
1
1
lob_24_ASD_discovery_cases
Patients with ASD whose electronic medical records (EMRs) were queried from April 1, 2015 through March 31, 2020 and who had at least one genetic testing result documented in their chart; study completed at the Children's Neurodevelopmental Center, Hasbro Children's Hospital, Providence, RI.
523
Cases diagnosed with ASD (ICD-10 code F.84), with the majority of diagnoses made using the ADOS-2 followed by CARS.
Range, 1-18 yrs.
76.67% Male
455126
0
1
1
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases
Adults with 15q13.3 deletions; one case from a cohort of 459 adults with schizophrenia (case 1); two adult probands from a collection of 11,150 clinical samples submitted for clinical microarray at the Hospital for Sick Children (cases 5 and 7); and a sample submitted to the Hospital for Sick Children for parental testing following the birth of an affected child (case 6).
4
All four cases present with some degree of developmental delay/intellectual disability or learning disability. Additional diagnoses/phenotypes include schizophrenia (n=1), epilepsy (n=1), ADHD (n=1), major depression (n=2), and anxiety (n=2).
Range, 39-65 yrs.
Female
1690000
3
0
3
maini_18_ASD/DD/ID_discovery_cases
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
489000
0
2
2
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
450000
2
0
2
meganathan_21_ASD/ADHD/DD_discovery_cases
8-year-old male proband with a maternally-inherited 15q13.3 duplication from a family with an unaffected mother with self-reported traits of depression and anxiety disorder and ADHD and an affected brother with pervasive developmental delay, depression and anxiety disorder, developmental delay, nonverbal communication problems, speech/language delay, ADHD, autistic traits, and mood disorder who al
1
Proband diagnosed with ASD, ADHD, depression and anxiety disorder and presented with developmental delay.
8 yrs.
Male
424130
0
1
1
melchior_13_TS/ADHD/OCD_discovery_cases
Three affected brothers from a family with Tourette syndrome and comorbidities
3
Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria in all three cases; two cases with additional diagnoses of OCD, one case with additional diagnosis of ADHD
N/A
Male
433000
0
1
1
mikhail_11_DD/ID_discovery_cases
Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)
1200
Developmental delay (DD), intellectual disability (ID), ASD, and/or multiple congenital anomalies
NA
NA
537000
1
0
1
moreira_14_ASD/EP_discovery_cases
ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions
531
ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.
N/A
N/A
555000
0
2
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
489130
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
39198
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
824800
1
1
2
pagnamenta_09_ASD_discovery_cases
Autism Genome Project (AGP) cohort of 525 probands and their parents. Multiplex:simplex ratio of 2:1.
525
ASD
83.3% Male
2000000
1
0
1
pagnamenta_09_ASD_proband_family_cases
Half-siblings of CNV-positive proband from discovery case cohort
2
ASD
100% Male
2000000
2
0
2
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
540422
0
4
4
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
510730
0
2
2
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)
81004
2
3
5
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
36304
2
0
2
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
443294
0
6
6
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
548000
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
395473
3
1
4
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
8
1
9
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
486123
0
5
5
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
3173
0
1
1
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
564108
1
6
7
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
445000
0
2
2
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
444000
0
1
1
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases
Affected family members in three generations affected with various neuropsychiatric phenotypes and cognitive impairment
4
Two twin brothers (III-2 and III-3) diagnosed with PDD-NOS, anxiety disorder, dysthymia, and borderline intellectual functioning; their mother (II-3) with a history of developmental delay and diagnosed with bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; and their maternal grandfather (I-1), whose clinical information was significant for alcoholism, drug addiction, and abusive behaviors to family members.
Range, 10 yrs.-N/A
75% Male
650400
0
8
8
stamouli_18_ASD/NDD_discovery_cases
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
26245
0
1
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
537284
0
2
2
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
273113
0
1
1
van_den_bossche_12_BPD_discovery_cases
Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
676
Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
229000
0
2
2
van_den_bossche_12_ID_discovery_cases
Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.
260
Intellectual disability (ID). Cases with total IQ<70 met definition of ID.
NA
NA
1071000
1
2
3
van_den_bossche_12_MDD_discovery_cases
Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
169
Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
229000
0
2
2
van_den_bossche_12_SCZ_discovery_cases
Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.
1281
Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.
NA
NA
1071000
1
6
7
wisniowiecka-kowalnik_12_ASD_discovery_cases
ASD patients from 132 simplex and 13 multiplex families of Polish descent
145
Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
Range, 3-26 yrs.
84.83% Male
200000
0
1
1
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
2370000
1
0
1
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
440507
0
1
1
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
400388
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
440507
1
0
1
zhou_16_SCZ_discovery_cases
Probands diangosed with childhood-onset schizophrenia recruited nationally as part of an ongoing longitudinal study
136
Childhood-onset schizophrenia (SCZ); probands met criteria for schizophrenia in the DSM-IIIR/DSM-IV before the age of 13 years.
N/A
N/A
600200
0
2
2
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
142000
0
3
3
ziats_16_DD/ID/ADHD/ASD_discovery_cases
Patients with 15q13.3 microdeletions spanning at least BP4-BP5 identified retrospectively by review of CMA results performed in the Baylor Medical Genetics Laboratory or Signature Genomics Laboratories (prior to its closure in 2014).
18
Original reasons for referral of cases included developmental delay (DD; n=5), intellectual disability (ID; n=9), ADHD (n=4), ASD (n=3), and depression (n=2). Cognitive and behavioral testing involved usage of the Differential Ability Scales-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).
Mean age, 14.0 yrs.
77.78% Male
N/A
15
0
15
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
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
465219
0
4
4
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
399000
5
1
6
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
372000
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
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.
436756
0
0
0
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
440000
0
52
52
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
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
498744
0
3
3
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1283672
0
1
1
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
NA
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
532246
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
81000
1
1
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
81000
3
6
9
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
517610
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
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)
132440
0
2
2
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)
36304
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.
28372
1
0
1
van_den_bossche_12_BPD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
229000
0
1
1
van_den_bossche_12_ID_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
229000
0
1
1
van_den_bossche_12_MDD_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
229000
0
1
1
van_den_bossche_12_SCZ_discovery_controls
Control individuals from Belgium, Sweden, and Scotland
1210
Control. Belgian controls were randomly selected from general population; Swedish controls were randomly selected from the Betula study, consisting of a large population-based sample representative of the general population; Scottish controls were Caucasian blood donors or volunteers in which a history of major psychiatric illness was excluded.
NA
NA
229000
0
1
1
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
400388
0
0
0
zhou_16_SCZ_discovery_controls
"Healthy" siblings of schizophrenia probands recruited nationally as part of an ongoing longitudinal study
116
Siblings of schizophrenia probands that did not meet criteria for schizophrenia (other non-psychotic diosrders were allowed)
N/A
N/A
600200
0
3
3
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
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
bacchelli_15_ASD_discovery_cases
Italian
qPCR
Solid phase hybridization (Illumina 1M-Duo)
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
None
beal_13_ASD_discovery_cases
N/A
aCGH
N/A
FISH
ben-shacher_09_ASD_discovery_cases
aCGH
BACs aCGH, Agilent 44K
ADM-2
Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
FISH
ben-shacher_09_combined_discovery_cases
aCGH
BACs aCGH, Agilent 44K
ADM-2
Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
FISH
ben-shacher_09_non-ASD_discovery_cases
aCGH
BACs aCGH, Agilent 44K
ADM-2
Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
FISH
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases
Danish
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan HD
Affymetrix ChAS
None
budisteanu_21_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 8x60K ISCA v.2 or 4x180K
N/A
N/A
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP)
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
chen_21_ASD/DD/ID_discovery_cases
Taiwan
CMA
CytoOne Array (Phalanx Biotech)
CBS
MATLAB v.R2009a
None
chilian_13_DD/ID_discovery_cases
Germany
aCGH
Agilent Human Genome CGH Microarray 244A
qPCR
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
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
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
None
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
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
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
firouzabadi_16_ASD_discovery_cases
Iranian
aCGH
BlueGnome CytoChip ISCA 8x60K v2.0
BlueFuse Multi v3
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
ghasemi_firouzabadi_16_ASD_discovery_cases
Iranian
MLPA
MLPA P036, P070, P343, and P396 kits
None
gillentine_16_ASD/ADHD/DD/ID_discovery_cases
N/A
CMA
Platform N/A
MLPA
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_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
gorker_18_ASD_discovery_cases
Turkish
aCGH
Agilent SurePrint G3 8x60K
N/A
Agilent Feature Extraction v.12.0.1.1, Agilent Cytogenomics v.2.9.2.4
None
handrigan_13_ASD/DD/ID_discovery_cases
NA
aCGH, solid phase hybridization
Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
hoppman-chaney_12_CHRNA7_discovery_cases
NA
aCGH
Agilent 4x44 K or Agilent 4x180K
Agilent DNA Analytics V4.0
FISH
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
None
kamien_14_ASD_discovery_cases
N/A
aCGH
BlueGnome 60K ISCA array
BlueMulti v.26
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
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
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
QuantiSNP, PennCNV
None
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
aCGH (Agilent 1M)
lintas_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome CGH SurePrint G3 4x180K
ADM-2
Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Validation by visual inspection, RT-PCR, or PCR
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
lob_24_ASD_discovery_cases
United States
CMA
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases
Caucasian
Array SNP, N/A
Affymetrix 6.0
FISH
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
meganathan_21_ASD/ADHD/DD_discovery_cases
United States
Array SNP
Affymetrix CytoScan HD
N/A
N/A
None
melchior_13_TS/ADHD/OCD_discovery_cases
Denmark
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
qPCR
mikhail_11_DD/ID_discovery_cases
NA
aCGH
Agilent 4 X 44K, Agilent 2 X 105K
Feature Extraction V9.5, DNA Analytics V4.0
FISH
moreira_14_ASD/EP_discovery_cases
Ethnically-mixed Brazilian
MLPA
Array SNP
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
pagnamenta_09_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1M BeadChip SNP array
QuantiSNP
BeadStudio
aCGH (Agilent 44K)
pagnamenta_09_ASD_proband_family_cases
Caucasian
Solid phase hybridization
Illumina Human 1M BeadChip SNP array
QuantiSNP
BeadStudio
aCGH (Agilent 44K)
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
None
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
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
rosenfeld_10_non-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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
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)
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases
Caucasian
aCGH, FISH
CMA V8.1 OLIGO
FISH, aCGH (NimbleGen 4.2M, Agilent 4x44K), qPCR
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
qPCR
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
van_den_bossche_12_BPD_discovery_cases
264 from Belgium, 305 from Sweden, 107 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_cases
Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_cases
170 from Belgium, 543 from Sweden, 568 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
wisniowiecka-kowalnik_12_ASD_discovery_cases
Polish
aCGH
OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
BCM web-based software, custom-designed IMiD-web2py software
FISH
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
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhou_16_SCZ_discovery_cases
N/A
N/A
N/A
PennCNV, QuantiSNP, GNOSIS
CNVision
None
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR, solid phase hybridization
ziats_16_DD/ID/ADHD/ASD_discovery_cases
N/A
CMA
MLPA
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
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
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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_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
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
van_den_bossche_12_BPD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_ID_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_MDD_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
van_den_bossche_12_SCZ_discovery_controls
357 from Belgium, 502 from Sweden, 351 from Scotland
MAQ
50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
MAQ-S (in-house MAQ software package)
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_16_SCZ_discovery_controls
N/A
N/A
N/A
PennCNV, QuantiSNP, GNOSIS
CNVision
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_ID1546
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
32159287
32541458
382172
GRCh38
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID498
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
32159287
32633875
474589
GRCh38
Deletion
Yes
akter_23_ASD/ADHD/DD/ID_discovery_cases-case13
4.5 yrs.
M
Developmental delay
Developmental delay, speech delay, cyanosis apnea HIE-II. Growth parameters: height 1.02 m, weight 28 kg, head circumference 52 cm. Family history: born to non-consanguineous parents.
31741320
32222899
481580
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case15
13.67 yrs.
F
Developmental delay
Excessive salivation, lack of self care, delayed development. Growth parameters: height 1.32 m, weight 29 kg, head circumference 52 cm. Family history: born to non-consanguineous parents.
31737244
32222899
485656
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case207
3 yrs.
M
ASD
Autism, regression of speech after 2 years. Growth parameters: height 0.95 m, weight 19 kg, head circumference 50 cm. Family history: no data on familial consanguinity.
31741320
32222899
481580
GRCh38
Duplication
No
bacchelli_15_ASD_discovery_cases-case3474_3
13 yrs.
M
Autism
Diagnosis of autism based on meeting ADI-R and ADOS criteria. Birth and neonatal history: no exposure of history of alcohol, tobacco, or drug abuse during pregnancy; born at term by C-section; birth weight of 3550 g (50th %ile) and length of 50 cm (50th %ile); breast-fed with good suction. Developmental milestones: sat unaided at age of 8 months, started walking independently at 16 months; babbling noted at age of 9 months, pronounced first words at 12 months; regression of language skills at age 18 months associated with refusal of physical contact, selective feeding, and hyperactivity. Language and communication evaluation: able to pronounce only single words with reduced gesture repertoire; limited comprehension. Epilepsy/seizures: developed complex partial seizures with secondary generalization at age of 13 years. EEG: reported to be normal at age of 5 years 5 months. Brain imaging: brain MRI reported to be normal. Dysmorphic features: bilateral epicanthal folds, broad-hypoplastic nasal bride, prominent digit pads. Growth parameters: weight of 26 kg (97th %ile), height of 114 cm (50th-75th %ile), and OFC of 55.5 cm (>90th %ile) at age of 5 years 5 months. Family history: only child of healthy non-consanguineous parents; paternal grandfather's sister affected by intellectual disability; paternal grandfather's brother had speech delay.
Moderate cognitive impairment
31713145
32223772
510628
GRCh38
Duplication
Yes
bartnik_12_EP_discovery_cases-case23
NA
F
Epilepsy
Age of onset of epilepsy: 3 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME) with absence seizures with eyelid myoclonia and generalized tonic-clonic seizures (GTCS). Parental phenotype: unknown.
Normal IQ
32003935
32112155
108221
GRCh38
Duplication
No
beal_13_ASD_discovery_cases-case1
4 yrs.
M
Autism and epilepsy
Birth/neonatal history: product of full term gestation delivered via repeat cesarian section; no complications with pregnancy or delivery. Developmental milestones: speech delay; first words around 1 year of age, speaking in multiple word phrases at age of 3 years. Behavioral/psychiatric evaluation: failed to engage socially with other children his age; inappropriately affectionate towards adults, even those he did not know; poor eye contact; repeatedly hugged examiner, but did not speak to the examiner or answer questions; no echolalia. Epilepsy/seizures: three reported seizures; first event described as a 5-minute generalized convulsion, patient found to be febrile and treated with antibiotics for sinusitis; second seizure (generalized convulsion) reportedly resolved after 2 minutes, but then recurred about 2 hours later and last approximately 5 minutes, patient again found to be febrile and was diagnosed with upper respiratory tract infection; third seizures (focal) occurred more than a year later, described as slumping to the right and shaking of right arm, lasting about 2 minutes. EEG: initial routine EEG showed rare right parietal sharp waves; subsequent monitoring with continuous EEG for 2 days demonstrated 3- to 4-Hz sharp wave and slow wave discharges independently over both hemispheres, right greater than left; no seizures were captured. Brain imaging: brain MRI significant for pachygyria and associated subcortical band heterotopia in the posterior frontal and temporal lobes and in the parietal and occipital lobes. Additional medical history: no significant medical history prior to presentation of symptoms. Family history: no family history of seizures, autism, mental retardation, or other neurologic impairments; parents declined genetic testing.
N/A
N/A
500000
Unknown
Duplication
Yes
ben-shacher_09_ASD_discovery_cases-caseF12-1
NA
Autism
Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%
IQ 70
1600000
Unknown
Deletion
Yes
ben-shacher_09_ASD_discovery_cases-caseF12-2
NA
Autism
Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%
IQ 70
1600000
Unknown
Deletion
Yes
ben-shacher_09_ASD_discovery_cases-caseF2-1
NA
Asperger
Mild language delay, no seizures, ADHD; weight 95%, height >97%, FOC 90%
IQ 82
1600000
Unknown
Deletion
Yes
ben-shacher_09_ASD_discovery_cases-caseF8-1
NA
Autism
Moderate language delay, no seizures, ADHD; long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of non-ASD discovery case F8-2.
Mild MR
1600000
Unknown
Deletion
Yes
ben-shacher_09_ASD_discovery_cases-caseF9-1
NA
ASD
Severe language delay, no seizures, extremely hyperkinetic & very aggressive behaviors, mild facial dysmorphism; weight 50%, height 75% (10 yrs.), FOC 50% (birth)
IQ 27
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF10-1
NA
Developmental delay
Global developmental delay, too young to determine ASD; severe language delay, no seizures, rocking, normal MRI; weight 2%, height 10%, FOC 25%
NA
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF11-1
NA
Developmental delay
Moderate developmental delay, no ASD; severe language delay, no seizures; weight 95%, height 90%, FOC >97%
NA
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF3-1
NA
Developmental delay
Moderate developmental delay/borderline ASD; severe language delay, no seizures, normal MRI, weight/height/FOC all 50-75%
NA
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF4-1
NA
Language delay
Mild language delay, normal developmental delay (?), no ASD, seizures, normal MRI; weight 65%, height 7%
NA
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF5-1
NA
Developmental delay
Moderate developmental delay, no ASD; moderate language delay, no seizures, digital findings, arachnoid cyst; weight 44%, height 11%, FOC 75%
NA
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF6-1
NA
Developmental delay
Mild developmental delay, no ASD; moderate language delay, no seizures, aggressive, self-injurious; weight 92%, height >89%, FOC 50%
NA
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF7-1
NA
Developmental delay
Moderate developmental delay, no ASD; moderate language delay, no seizures, head banging, digital findings, normal MRI; weight, height, & FOC within normal range
NA
1600000
Unknown
Deletion
Yes
ben-shacher_09_non-ASD_discovery_cases-caseF8-2
NA
Mental retardation
No ASD; moderate language delay, no seizures, impulsive, ADHD, mood disorder, long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of ASD discovery case F8-1.
Mild MR
1600000
Unknown
Deletion
Yes
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient5
N/A
M
Tourette syndrome
Symptoms: TS. Family history: both mother and father were unaffected.
N/A
31726984
32147097
420114
GRCh38
Duplication
No
budisteanu_21_ASD/DD/ID_discovery_cases-case1
9 yrs.
M
ASD and developmental delay/intellectual disability
Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: severe speech delay (first words at 4 years 6 months, first sentences at 6 years); severe motor delay. Language and communication evaluation: dyslalia. Motor and musculoskeletal evaluation: hypotonia, inability to walk independently at 9 years, secondary left hemiparesis following surgical intervention in early childhood, impaired fine motor skills. Behavioral/psychiatric evaluation: aggressive behavior, low frustration threshold, stereotypic movements, poor social interaction skills. Epilepsy/seizures: none reported. EEG: EEG anomalies reported (focal discharges of spike-and-wave complexes and spikes). Brain imaging: brain MRI abnormalities reported (right temporal cyst). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range.
Variable evolution with mild developmental delay (DQ 51) at 26 months followed by a decrease in IQ (45 at 9 years) after neurosurgical intervention due to a large right temporal cyst.
31680442
32217725
537284
GRCh38
Duplication
No
budisteanu_21_ASD/DD/ID_discovery_cases-case2
15 yrs.
M
ASD, developmental delay/intellectual disability, and epilepsy
Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: moderate speech delay (first words after 3 years); moderate motor delay. Language and communication evaluation: dyslalia. Motor and musucloskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: hyperkinesia, aggressive behavior, low frustration threshold, stereotypic movements, poor social interaction skills. Epilepsy/seizures: focal epileptic seizures. EEG: EEG anomalies reported (focal discharges of spike-and-wave complexes and spikes). Brain imaging: brain MRI abnormalities reported (Dandy-Walker malformation). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range.
Moderate developmental delay/intellectual disability (IQ/DQ 40)
31772796
32150877
378082
GRCh38
Duplication
No
budisteanu_21_ASD/DD/ID_discovery_cases-case3
2 yrs. 4 mos.
M
ASD and developmental delay/intellectual disability
Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: moderate speech delay (no words at 2 years 4 months); mild motor delay. Motor and musucloskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: stereotypic movements, poor social interaction skills, sleep problems. Epilepsy/seizures: none reported. EEG: not available. Brain imaging: normal (no brain MRI abnormalities present). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range.
Moderate developmental delay/intellectual disability (IQ/DQ 39)
31759029
32218662
459634
GRCh38
Duplication
No
budisteanu_21_ASD/DD/ID_discovery_cases-case4
4 yrs.
F
ASD and developmental delay
Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: moderate speech delay (first words after 3 years). Language and communication evaluation: dyslalia. Motor and musculoskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: hyperkinesia, poor social interaction skills. Epilepsy/seizures: none reported. EEG: not available. Brain imaging: not available. Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range. Family history: affected sibling with 15q13.3 duplication (case 5 in this report).
Normal cognitive development (IQ/DQ 73)
31759029
32218662
459634
GRCh38
Duplication
No
budisteanu_21_ASD/DD/ID_discovery_cases-case5
10 yrs.
M
ASD and developmental delay
Case diagnosed with autism spectrum disorder (according to DSM5 criteria; clinical diagnosis confirmed by either ADOS or ADI-R). Developmental milestones: mild speech delay (first words at 15 months, first simple sentences at 2 years 7 months). Motor and musculoskeletal evaluation: hypotonia, impaired fine motor skills. Behavioral/psychiatric evaluation: low frustration threshold, poor social interaction skills, anxiety disorder. Epilepsy/seizures: none reported. EEG: EEG anomalies reported (focal discharges of spike-and-wave complexes and spikes). Brain imaging: normal (no brain MRI abnormalities present). Dysmorphic features: none reported. Growth parameters: height, weight, and head circumference within normal range. Family history: affected sibling with 15q13.3 duplication (case 4 in this report).
Normal cognitive development (IQ/DQ 90)
31759029
32218662
459634
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11178
NA
M
ASD
NA
NA
32153551
32170442
16892
GRCh38
Deletion
Yes
chen_17_ASD_discovery_cases-caseU-1850
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 22); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 11); Qualitative abnormalities in nonverbal communication, current score 3 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 8); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 95; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.
Performance IQ 105, Verbal IQ 114, Full-scale IQ 111
32853510
33253897
400388
GRCh38
Duplication
Yes
chen_17_ASD_discovery_cases-caseU-2158
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 0 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 10); Qualitative abnormalities in nonverbal communication, current score 0 (past score 5); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 6); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 71; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 28. Epilepsy: no history of epilepsy.
Performance IQ 112, Verbal IQ 95, Full-scale IQ 103
32166460
32565269
398810
GRCh38
Deletion
Yes
chen_21_ASD/DD/ID_discovery_cases-case18
NA
NA
Developmental delay/intellectual disability
Developmental delay/intellectual disability
Developmental delay/intellectual disability
31732569
32151809
419241
GRCh38
Duplication
No
chilian_13_DD/ID_discovery_cases-case1
5 yrs.
M
Developmental delay/intellectual disability
Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.
Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.
31729530
32218662
489133
GRCh38
Duplication
Yes
christian_08_ASD_discovery_cases-AU052003
NA
M
ASD
NA
NA
30999907
31371464
371558
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case135
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
31729529
32218662
489134
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case328
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
31759029
32218662
459634
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case329
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
31729529
32218662
489134
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299973
N/A
M
Developmental delay/intellectual disability
31729530
32218662
489133
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300212
N/A
F
Developmental delay/intellectual disability
31735530
32218662
483133
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300527
N/A
M
Developmental delay/intellectual disability
31729530
32146742
417213
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300534
N/A
M
Developmental delay/intellectual disability
31729530
32218662
489133
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_301271
N/A
M
Developmental delay/intellectual disability
31729530
32218662
489133
GRCh38
Duplication
No
du_21_ASD/DD/ID_discovery_cases-case453
6 yrs.
M
Developmental delay
Global developmental delay, hypopigmentation
31726527
32222140
495614
GRCh38
Deletion
No
egger_14_ASD_discovery_cases-caseA2
23 yrs. (born 1991)
M
ASD
Diagnosis: early infantile autism. Comorbidities/additional features: ADHD. Family history: sister with cognitive impairment. CNV: high stringency genic CNV call (2 or more algorithms, with no overlapping calls in 2,357 POPGEN and OHI controls, 100% overlap in DGV.
Cognitive impairment (IQ<60)
31707442
32151995
444554
GRCh38
Deletion
Yes
feliciano_19_ASD_discovery_cases-caseSP0000759
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
31063118
31076922
13805
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0013984
N/A
M
ASD
Family history: mother presents with anxiety.
31060493
31076989
16497
GRCh38
Deletion
No
firouzabadi_16_ASD_discovery_cases-patient3
7 yrs.
M
ASD
Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: seizures. Growth parameters: mild microcephaly (head circumference -2 SD).
Intellectual disability
31772827
32217696
444870
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
N/A
M
Developmental delay
Global developmental delay; Abnormal facial shape; Mild short stature; Abnormality of the cardiac septa
31673312
32526812
853501
GRCh38
Duplication
No
fry_16_DD/ID/EP/ASD_discovery_cases-caseR528
23 yrs.
M
ASD, intellectual disability and epilepsy
Clinical features: severe intellectual disability, developmental regression, ASD, challenging behavior, dysmorphic features. Age of seizure onset: 11 years. Epilepsy syndrome: focal epilepsy. Seizure types: absence seizures.
Severe intellectual disability
31727716
32222140
494425
GRCh38
Duplication
Yes
fry_16_DD/ID/EP/ASD_discovery_cases-caseR650
21 yrs.
M
Intellectual disability and epilepsy
Clinical features: mild intellectual disability, thin habitus, depression. Age of seizure onset: 18 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, generalized tonic-clonic seizures.
Mild intellectual disability
31737490
32222725
485236
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case534-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
31914658
31939060
24403
GRCh38
Duplication
No
ghasemi_firouzabadi_16_ASD_discovery_cases-p35
7 yrs.
M
ASD
Seizures, ADHD, microcephaly
Intellectual disability
N/A
N/A
N/A
Unknown
Duplication
No
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient1
5 yrs.
M
ASD and ADHD
Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for autism on ADOS (clinical impression of ASD). Original reason for referral: Central nervous system disorder. Developmental milestones: walking at 19 months, first word at 17 months, 2 word sentences at 47 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 25th %ile, weight 10th %ile, OFC 90th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, mother was bipolar as a teen and had challenges in high school; noncarrier parental phenotype, father has a history of depression and had challenges in high school.
Full scale ratio IQ (DAS-II): 71.
31923071
32153051
229981
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient10
10 yrs.
F
ASD and developmental delay/intellectual disability
Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Moderate developmental delay/intellectual disability, dysmorphic features. Developmental milestones: sitting at 12 months, walking at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 80th %ile, OFC 36th %ile. Ethnicity: Vietnamese. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
Full scale ratio IQ (DAS-II): 38.
32003935
32151825
147891
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient11
6 yrs.
M
ADHD and developmental delay
Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay, behavioral problems. Developmental milestones: sitting at 10 months, crawling at 10 months, walking at 14 months, first word at 42 months, two word sentences at 60 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: one seizure at age of 8 months. Growth parameters: height 5th %ile, weight 1st %ile, OFC <1st %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of schizophrenia, ADHD, and learnng disability; noncarrier parental phenotype, mother has a history of depression and anxiety; CHRNA7 duplication is present in 1/2 siblings presenting with unspecified neuropsychiatric conditions.
Full scale ratio IQ (DAS-II): 85.
31926071
32153051
226981
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient12
14 yrs.
M
ADHD and epilepsy
Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, partial empty sella with small pituitary, ADHD, epilepsy. Developmental milestones: sitting at 5 months, crawling at 5 months, walking at 10 months, first word at 10 months, two word sentences of 18 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: idiopathic generalized epilepsy. Growth parameters: height 1st %ile, weight 2nd %ile, OFC 2nd %ile. Ethnicity: Caucasian/Native American. Family history: carrier parental phenotype, N/A; noncarrier parental phenotype, N/A.
Full scale ratio IQ (DAS-II): 72.
31926071
32132866
206796
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient13
12 yrs.
F
ADHD and bipolar disorder
Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Bipolar disorder, possible ADHD, behavioral problems, suicidal tendencies, prenatal exposure to teratogens, scoliosis, chromosomal abnormality. Developmental milestones: sitting at 5 months, crawling at 9 months, walking at 12 months, first word at 10 months, two word sentences at 12 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 90th %ile, OFC N/A. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of bipolar disorder, PTSD, and substance abuse; noncarrier parental phenotype, mother has a history of anxiety.
Full scale ratio IQ (DAS-II): 87.
31926071
32146594
220524
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient14
8 yrs.
M
ASD
Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Dysmorphic features. Developmental milestones: crawling at 11 months, walking at 17 months, two word sentences at 42 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 67th %ile, weight 75th %ile, OFC 97th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of depression and attention deficit disorder; unaffected sibling who tested negative for the CHRNA7 duplication.
Full scale ratio IQ (DAS-II): 101.
31926071
32122959
196889
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient15
6 yrs.
M
Developmental delay/intellectual disability
Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay/intellectual disability, aortic dilatation. Developmental milestones: sitting at 7 months, crawling at 14 months, walking at 19 months, first word at 36 months, two word sentences at 42 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 20th %ile, weight 10th %ile, OFC 41st %ile. Ethnicity: Caucasian/Hispanic. Family history: carrier parental phenotype, father has a history of learning disabilities/intellectual disabilities; noncarrier parental phenotype, none.
Full scale ratio IQ (DAS-II): 64.
31926071
32153051
226981
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient17
11 yrs.
M
Dyslexia
Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Dyslexia, anger control problems. Developmental milestones: sitting at 5 months, crawling at 6 months, walking at 12 months, first word at 14 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 61st %ile, weight 93rd %ile, OFC 67th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none; affected sibling with CHRNA7 duplication (patient 5 in this report).
Full scale ratio IQ (DAS-II): 89.
32003935
32151825
147891
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient18
10 yrs.
F
ASD and ADHD
Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Developmental delay, macrocephaly. Developmental milestones: sitting at 7 months, crawling at 11 months, walking at 16 months, first word at 15 months, two word sentences at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 70th %ile, weight 70th %ile, OFC 99th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of stutter and currently takes concerta.
Full scale ratio IQ (DAS-II): 59.
31926071
32153051
226981
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient2
11 yrs.
F
Encephalopathy and language impairment
Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Encephalopathy. Developmental milestones: sitting at 5 months, walking at 9 months, first word at 24 months, two word sentences at 60 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 25th %ile, weight 25th %ile, OFC 50th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has no phenotype.
Full scale ratio IQ (DAS-II): 53.
32003935
32153051
149117
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient3
12 yrs.
F
ASD and ADHD
Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Autism. Developmental milestones: sitting at 6.5 months, crawling at 8.5 months, walking at 13 months, first word at 10 months, two word sentences at 30 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 66.43th %ile, weight 67.85th %ile, OFC 70th %ile. Ethnicity: Caucasian/Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of Asperger syndrome, ADHD, anxiety, and hypotonia.
Full scale ratio IQ (DAS-II): 132.
31926071
32153051
226981
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient5
6 yrs.
M
Developmental delay and epilepsy
Assessment by ADI-R and ADOS N/A (clinical impression of ASD N/A). Original reason for referral: Developmental delay. Developmental milestones: first word at 24 months. Langauge and communication evaluation: absent speech (non-verbal). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: myoclonic epilepsy and infantile spasms. Growth parameters: N/A. Ethnicity: Caucasian. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none; affected sibling with CHRNA7 duplication (patient 17 in this report).
Full scale ratio IQ (DAS-II): N/A.
32003935
32151825
147891
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
5 yrs.
M
Developmental delay
Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay. Developmental milestones: sitting at 12 months, crawling at 12 months, walking at 36 months, first word at 42 months, two word sentences at 48 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 14.97th %ile, weight 38.7th %ile, OFC 45th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
Full scale ratio IQ (DAS-II): 103.
32003935
32151889
147955
GRCh38
Duplication
Yes
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.
32003935
32153051
149117
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient8
10 yrs.
M
Language impairment and hypotonia
Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: None. Developmental milestones: sitting at 10 months, crawling at 12 months, walking at 14 months, first word at 14 months, two word sentences at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 70th %ile, weight 20th %ile, OFC 55th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of dyslexia; noncarrier parental phenotype; none; CHRNA7 duplication is also present in a affected sibling (cognitive deficits).
Full scale ratio IQ (DAS-II): 115.
31711334
32151843
440510
GRCh38
Duplication
Yes
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient9
6 yrs.
M
ASD and ADHD
Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of ASD). Original reason for referral: None. Developmental milestones: sitting at 8 months, crawling at 10 months, walking at 15 months, first word at 13 months, two word sentences at 48 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 84.17th %ile, weight 89.84th %ile, OFC 75th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.
Full scale ratio IQ (DAS-II): 88.
31711334
32151843
440510
GRCh38
Duplication
Yes
girirajan_11_ASD_discovery_cases-Si129
6
M
Autism
ADOS score: 9. Vineland composite score: 77.
Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.
31709285
32146043
436759
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.
31727660
32146043
418384
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si82
14
M
Autism
ADOS score: 4. Vineland composite score: 81.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
31727660
32136077
408418
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case0681
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0682
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0683
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0684
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0685
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0686
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0687
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Deletion
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0688
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0689
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0690
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0691
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0692
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0693
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0694
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0695
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0696
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0697
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0698
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0699
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0700
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0701
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0702
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0703
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0704
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0705
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0706
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0707
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0708
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0709
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0710
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0711
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0712
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0713
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0714
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0715
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0716
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0717
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0718
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0719
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0720
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0721
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0722
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0723
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0724
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0725
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0726
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0727
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0728
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0729
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0730
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0731
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0732
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0733
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0734
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0735
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0736
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0737
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0738
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0739
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0740
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0741
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0742
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0743
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0744
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0745
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0746
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0747
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0748
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0749
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0750
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0751
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0752
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0753
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0754
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0755
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0756
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0757
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0758
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0759
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0760
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0761
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0762
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0763
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0764
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0765
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0766
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0767
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0768
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0769
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0770
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0771
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0772
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0773
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0774
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0775
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0776
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0777
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0778
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0779
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0780
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0781
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0782
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0783
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0784
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0785
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0786
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0787
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0788
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0789
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0790
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0791
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0792
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0793
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0794
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0795
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0796
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0797
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0798
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0799
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0800
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0801
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0802
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0803
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0804
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0805
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0806
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0807
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0808
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0809
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0810
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0811
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case0812
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_cases-case28304
NA
NA
MCA
Multiple congenital anomalies (MCA)
NA
31720505
32160507
440003
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case31441
NA
NA
Cardiac defects
Heart defect
NA
31720505
32160507
440003
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case38091
NA
NA
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case40242
NA
F
Developmental delay
NA
NA
31720505
32160507
440003
GRCh38
Duplication
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case46810
NA
NA
Developmental delay
NA
Developmental delay
31720505
32160507
440003
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13686.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
31063151
31099454
36304
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU0316301
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
31063151
31099454
36304
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU079904
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
31063151
31099454
36304
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1006301
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
31097443
31109013
11571
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU2275301
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
31063151
31099454
36304
GRCh38
Deletion
Yes
girirajan_13b_ASD_discovery_cases-10609111027
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
31727660
32146043
418384
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-10609111027
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
31711615
32326798
615184
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-9106105625
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
31727660
32146043
418384
GRCh38
Duplication
No
gorker_18_ASD_discovery_cases-case20
5 yrs.
M
ASD, ADHD, ID
ASD and ADHD
Intellectual disability
31806467
32134668
328202
GRCh38
Duplication
No
handrigan_13_ASD/DD/ID_discovery_cases-patient32
6 mos.
M
ASD
Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.
31737398
32146912
409515
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY90
4 yrs. 9 mos.
M
ASD
31716781
32151995
435215
GRCh38
Duplication
No
hnoonual_17_ASD_discovery_cases-caseRA29
N/A
M
ASD and intellectual disability
No additional clinical features
Intellectual disability
32097159
32122887
25729
GRCh38
Deletion
No
hoppman-chaney_12_CHRNA7_discovery_cases-probandA
5 yrs.
M
Autism + DD/ID
Autism spectrum disorder: autism. Behavioral problems: ADHD, aggression, hyperphagia. Seizures: Yes. Dysmorphic facial features: short & thick philtrum, full lips, everted upper & lower lips, mild retrognathia. Other features: abnormal hand movements, hypertrichosis on upper arms, bilateral single palmar creases, mildly tapered fingers, shirt 5th metacarpals, hypomelanotic macules, nystagmus, T2 hyperintensity in cerebral cortex. Family history: father with bipolar disorder; two half-siblings with ADHD, facial dysmorphism, and myopia; one half-sibling with strawberry hemangiona on arm (too young to evaluate psychiatric condition); all carry 15q13.3/CHRNA7 deletion.
Global developmental delay and cognitive disability
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandF
4 yrs.
M
Developmental delay + intellectual disability
Autism spectrum disorder: NA. Behavioral problems: Yes. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: father with psychiatric problems; sister with developmental delay; paternal aunt with bipolar disorder, paternal cousin with cognitive disabilities (all affected individuals carry 15q13.3/CHRNA7 deletion).
Developmental delay and cognitive disability
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandK
5 wks.
M
Other
Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: failure to thrive. Family history: both parents with developmental delay.
NA
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandL
7 yrs.
M
PDD-NOS
Autism spectrum disorder: PDD-NOS. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: NA.
NA
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandM
2 yrs.
M
PDD-NOS
Autism spectrum disorder: PDD-NOS. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: NA.
NA
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandN
5 wks.
F
Other
Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: none. Other features: feeding difficulties, central hypotonia, neutropenia. Family history: mother with anxiety and major depression.
NA
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandO
3 yrs.
M
Autism
Autism spectrum disorder: autism. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: macrocephaly. Other features: NA. Family history: father with dyslexia and ADHD.
NA
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandR
9 mos.
M
Other
Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: mild hypertelorism. Other features: chronic otitis media. Family history: NA.
No developmental delay or cognitive disability
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandS
16 mos.
M
Other
Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA . Other features: lack of coordination. Family history: NA.
NA
NA
NA
NA
Unknown
Deletion
Yes
hoppman-chaney_12_CHRNA7_discovery_cases-probandT
4 yrs.
M
Developmental delay + intellectual disability
Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: microcephaly. Other features: failure to thrive, hypotonia, structural brain anomaly, encephalopathy. Family history: NA.
Global developmental delay and cognitive disability
NA
NA
NA
Unknown
Deletion
Yes
hu_22_ASD_discovery_cases-case7
NA
M
ASD
Case met criteria for ASD using DSM-5.
31772779
32151362
378584
GRCh38
Duplication
No
kamien_14_ASD_discovery_cases-case2
5 yrs.
M
ASD
Diagnosis of autistic disorder made using ADOS, ADI-R, and DSM-IV-TR criteria performed at age of 4 years, 6 months. Birth/neonatal history: born at 36 weeks gestation after uncomplicated pregnancy with no known exposures in utero; birth weight of 3.33 kg (AGA). Developmental milestones: concerns raised at age of 18 months for speech delay. Behavioral/psychiatric evaluation: anxiety and sensory issues. Other features: normal investigations including fragile X testing and urine metabolic screening. Dysmorphic features: relatively smooth philtrum. Growth parameters: height of 118 cm (97th %ile), weight of 15.0 kg (10th %ile), and head circumference of 51.0 cm (50th %ile) at age of 5 years. Family history: father (positive for 16p13.3/RBFOX1 deletion) with no medical conditions and no reported learning difficulties or social difficulties; maternal and paternal relatives reported ro have significant learning difficulties or ASD, but no testing data available.
Griffith's Developmental assessment at age of 5 years showed cognitive performance of approximately 4 years, 9 months (i.e. within lower end of average range of functioning).
31772827
32217696
444870
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000593
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31738809
32217725
478917
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002161
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31729530
32149250
419721
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002262
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31729530
32149250
419721
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31729530
32149250
419721
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31729530
32149250
419721
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31729530
32149250
419721
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002507
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31729530
32149250
419721
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003877
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31738809
32217725
478917
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31729530
32222779
493250
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004441
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31806467
32343758
537292
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12833.p1
N/A
M
ASD
ASD proband from SSC quad family 12833. SRS score of 76.
Full-scale IQ (FSIQ) score of 65.
32030897
32111899
81003
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11298.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12219.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13661.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14086.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14125.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14213.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14268.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32030897
32111899
81003
GRCh38
Duplication
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
31727716
32223772
496057
GRCh38
Duplication
No
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
31728323
32223772
495450
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case13.1
N/A
M
Autism
No additional clinical information available
31864901
32134668
269768
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case5.1
N/A
M
Autism
No additional clinical information available
31680443
32146742
466300
GRCh38
Duplication
Yes
lintas_17_ASD_discovery_cases-case5.2
N/A
M
Asperger syndrome
No additional clinical information available
31680443
32146742
466300
GRCh38
Duplication
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case3
N/A
M
Chiari I malformation
Growth restriction, low birth weight. Chiari I malformation. Dysmorphic features and congenital anomalies: transverse palmar crease, cleft lip/palate.
31772827
32217696
444870
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
15 yrs.
M
ASD and ID
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Intellectual disability
32323405
32384654
61250
GRCh38
Duplication
No
li_18_ASD_discovery_cases-case4601
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
31688737
32172827
484091
GRCh38
Duplication
No
lob_24_ASD_discovery_cases-caseASD408
ASD and developmental delay
Case diagnosed with ASD (ICD-10 code F.84) and also presented with global developmental delay, sensory processing disorder, and motor stereotypies.
31711334
32166459
455126
GRCh38
Duplication
No
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case1
65 yrs.
F
Schizophrenia and intellectual disability
Language and communication: speech dysarticulation. Other features: adrenal adenoma, hyperlipidemia, osteoporosis, GERD, multiple small-bowel obstructions, renal cyst, Mosaic Turner syndrome (6 of 24 cells), hirsuitism. Growth parameters: OFC 50th %ile, height of 152.4 cm (short stature), BMI of 27.2 kg/m2. Family history: five family members (deceased father, three siblings, and one niece) affected wtith DD/ID and/or other psychiatric disorders (3/4 surviving family memebrs tested positive for 15q13.3 deletion).
Moderate intellectual disability (IQ testing at age of 30 years revealed FSIQ of 48, performance IQ of 44, and verbal IQ of 56)
30529434
32220019
1690586
GRCh38
Deletion
Yes
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case5
39 yrs.
F
Epilepsy and learning disability
Epilepsy/seizures: primary generalized epilepsy; absence/generalized tonic-clonic seizures. EEG: abnormal. Language and communication evaluation: speech dysarthria. Behavioral/psychiatric evaluation: major depression, anxiety. Brain imaging: abnormal CT head without contrast. Birth/neonatal history: difficult pregnancy for her mother due to macrosomia; birth weight of 9.5 lbs. Medical history: congenital thyroid hypoplasia requiring thyroxine, sleep apnea, nystagmus. Growth parameters: N/A. Family history: positive for seizures on father's side.
Learning disability
N/A
N/A
N/A
NCBI36
Deletion
No
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case6
39 yrs.
F
Learning disability
Language and communication evaluation: normal speech. Motor and musculoskeletal evaluation: scoliosis. Behavioral/psychiatric evaluation: major depression, anxiety. Other features: tonsillectomy, acquired unilateral hearing loss, type 2 diabetes mellitus, spontaneously closed septal defect during childhood. Family history: son with DD/ID and 15q13.3 deletion.
Learning disability
30662523
32222756
1560234
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case75
3 yrs.
M
ASD and language delay
Birth history: born at 37 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: ASD. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Dysmorphic features: prominent forehead, everted lower eyelid. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
Normal (no intellectual disability or learning disorder)
31729530
32218662
489133
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown40
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
31919348
32146883
227536
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530558
M
Intellectual disability
Abnormal facial shape (HP:0001999)
Intellectual disability (HP:0001249).
32139865
32589864
450000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530568
M
Autism
Autism (HP:0000717)
32139865
32589864
450000
GRCh38
Deletion
No
meganathan_21_ASD/ADHD/DD_discovery_cases-caseAP
8 yrs.
M
ASD, ADHD, and developmental delay
Developmental milestones: delayed language development, pervasive developmental disorder. Language and communication evaluation: nonverbal communication problems. Behavioral/psychiatric evaluation: poor eye contact (no eye contact at 5 years, intermittent at 12 years); autism spectrum disorder (level 1), ADHD, depression and anxiety disorder (score of 71 on Teacher Report Form), mood disorder; Social Responsiveness Scale-2 (SRS-2) score of 72, Child Behavioral Checklist (CBCL) total score of 72 (attention deficit score by CBCL 92), Screen for Child Anxiety-Related Disorders (SCARED)-P score of 46. Epilepsy/seizures: no. Family history: unaffected mother with self-reported traits of depression and anxiety disorder and ADHD; affected brother with pervasive developmental delay, depression and anxiety disorder, developmental delay, nonverbal communication problems, speech/language delay, ADHD, autistic traits, and mood disorder (both also have the 15q13.3 duplication).
31727714
32151843
424130
GRCh38
Duplication
No
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
8.5 yrs.
M
TS, ADHD, and OCD
Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Additional diagnoses of obsessive-compulsive disorder (OCD) and ADHD. Case started to have tics at age of 7.5 years (total tic store at age of 8.5 years); methylphenidate treatment initiated at age of 8 years for ADHD symptoms; case also had OCD and rage attacks, did not have seasonal affective disorder, depression, sleeping disturbances, or stuttering. Family history: monozygotic twin brother with Tourette syndrome (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3), older brother with Tourette syndrome and OCD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2), mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.
Full scale IQ of 82; received special educational support in school.
32011476
32444044
433000
Unknown
Duplication
Yes
mikhail_11_DD/ID_discovery_cases-patient7
4 yrs.
F
Intellectual disability + developmental delay
Behavioral problems: autistic features. Mild hypotonia. Dysmorphic features: mild hypertelorism, upslanted palpebral fissures. Growth parameters: height, 97 cm (10-25th %ile); weight, 15.0 kg (25-50th %ile); head circumference, 49.4 cm (25-50th %ile).
Intellectual disability, developmental delay
31680243
32217866
537624
GRCh38
Deletion
Yes
moreira_14_ASD/EP_discovery_cases-case2
16 yrs.
M
ASD and epilepsy
Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hand/feet contractures. Epilepsy/seizures: yes. Dysmorphic features: deep set ears/prominent or large ears, short philtrum, thick lips. Growth parameters: height of 156 cm (<3rd %ile), weight of 50 kg (10th %ile), and head circumference of 54.5 cm (25th-50th %ile). Family history: consanguineous parents; two unaffected siblings (not available for testing).
31731989
32217725
485737
GRCh38
Duplication
Yes
moreira_14_ASD/EP_discovery_cases-case3
12 yrs.
M
ASD and epilepsy
Developmental milestones: developmental delay/regression. Language and communication evaluation: absent speech. Epilepsy/seizures: yes. Dysmorphic features: bulbous nose, deep set ears/prominent or large ears, short philtrum. Growth parameters: height of 135 cm (3rd %ile), weight of 26 kg (<3rd %ile), and head circumference of 51 cm (<3rd %ile).
31663833
32219380
555548
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253202
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
31729530
32218662
489133
GRCh38
Duplication
N/A
nord_11_ASD_discovery_cases-316-1
ASD
29140951
29180148
39198
Unknown
Deletion
No
oikonomakis_16_ASD_discovery_cases-case449
18 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hearing impairment
31759030
32218662
459633
GRCh38
Duplication
No
oikonomakis_16_ASD_discovery_cases-case543
3 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: growth deficiency, stereotypic movements, frontal bossing, arched upper lip, macrostomia, open mouth, microcephaly
32146683
32971442
824760
GRCh38
Deletion
No
pagnamenta_09_ASD_discovery_cases-probandcase1
NA
M
ASD
Delayed language development, severe obesessional & hyperactive behaviors, very limited social interaction, poor eye contact, slightly disturbed coordination & dysdiadochokinesia, no epilepsy or abnormal EEG, no dysmorphologies reported, head cicrumference >97th centile, no hypotonia.
Verbal IQ 85. Performance IQ 72. Full scale IQ 77.
30646012
32621939
1975928
GRCh38
Deletion
Yes
pagnamenta_09_ASD_proband_family_cases-case2
NA
M
ASD
Delayed language development, socailly withdrawn, hyperactive behavior, irritable behavior in groups, poor eye contact, obsessional interests and ritualistic behaviors, no epilepsy or abnormal EEG, no dysmorphologies reported, head circumference 10-25th centile, no hypotonia.
Verbal IQ 99 (PPVT=115). Performance IQ 94 (RAVEN SPM=100). Full Scale IQ 96.
30646012
32621939
1975928
GRCh38
Deletion
Yes
pagnamenta_09_ASD_proband_family_cases-case3
NA
M
ASD
Markedly delayed language development, socially withdrawn, fixated with certain objects, use of idiosyncratic speech with articulation abnormalities. Hypotonia, distrubed coodination, dysdiadochokinesia, no dominant laterality. No epilepsy or abnormal EEG, head circumference >97th centile.
Verbal IQ 85 (PPVT=90). Performance IQ 65. Full Scale IQ 72.
30646012
32621939
1975928
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5237_3
NA
M
Autism
Below average language (<1%ile), no epilepsy, 5th finger clinodactyly, several curled toes
Below average nonverbal IQ (1%ile)
31728323
32223772
495450
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5248_3
NA
M
ASD
NA
NA
31713041
32223772
510732
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5311_3
NA
F
ASD
NA
NA
29816096
30303265
487170
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5320_3
NA
M
ASD
NA
NA
29762552
30302973
540422
Unknown
Duplication
Yes
pinto_14_ASD_discovery_cases2-case6325_3
N/A
M
ASD
Case previously described in Leblond et al. 2012 (subject AU038_3). Autism, congenital inguinal hernia, severe language delay, functional language, no dysmorphic features, normal neurological exam, hypermetropia, astigmatism, no epilepsy. Family history: both parents unaffected; no siblings.
Moderate ID
31713041
32223772
510732
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case6396_3
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
31713145
32206950
493806
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2130A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU079905; NDAR ID NDAR_INVTL336MH0)
31063116
31076923
13808
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case03HI2699A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU0316301; NDAR ID NDAR_INVXP868VP5)
31063116
31076923
13808
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case05HI3851A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
32030896
32111901
81006
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3863A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1340303; NDAR ID NDAR_INVFV383HNG)
32030896
32111901
81006
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4003A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1520302; NDAR ID NDAR_INVCE193UP7)
32111788
32163337
51550
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case157660L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
31063151
31099454
36304
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case55360
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
31063151
31099454
36304
GRCh38
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_294
1 yr.
F
Developmental delay
Additional clinical information N/A
Global developmental delay
31728229
32151843
423615
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_33
4 yrs.
F
Developmental delay
Mild language delay, dysmorphic facial features, adenoidal hypertrophy, hyperreflexia
Global developmental delay
31719272
32154629
435358
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_414
4 yrs.
M
Developmental delay
Joint hypermobility, accelerated growth
Global developmental delay
31728229
32147323
419095
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_459
7 yrs.
M
Intellectual disability and epilepsy
Psychomotor delay, myoclonic epilepsy, behavioral problems
31719255
32151843
432589
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_460
15 yrs.
M
Intellectual disability
Behavioral problems, sleep disturbances, obsessive behaviors.
Intellectual disability
31711334
32151843
440510
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_469
12 yrs.
M
ASD and intellectual disability
ASD
Intellectual disability
31711334
32154629
443296
GRCh38
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase9
27 yrs.
M
ASD
No reported clinical features
31713224
32261269
548046
GRCh38
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case21791
NA
NA
ASD
NA
NA
29207889
29603362
395473
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case23597
NA
NA
ASD
NA
NA
29207889
29603362
395473
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case26276
NA
NA
ASD
NA
NA
29207889
29603362
395473
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case28679
NA
NA
ASD
NA
NA
29207889
29603362
395473
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1328-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
31736601
32222725
486125
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1335-4
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: unknown.
31736601
32151995
415395
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1559-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
Developmental delay: unknown. Intellectual disability: unknown.
31736601
32151995
415395
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-172
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
31736601
32151995
415395
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-007
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
31736601
32151995
415395
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
31507946
31511119
3174
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT224
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
31727492
32283665
556174
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT225
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
31719558
32283665
564108
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT227
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
31719558
32222689
503132
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT228
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with hypotonia and psychomotor delay.
31806466
32131657
325192
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT229
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
31767271
32247459
480189
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT230
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with psychomotor delay.
31719558
32222689
503132
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT231
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
31719558
32222689
503132
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case56
9 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
31772797
32217725
444929
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case88
8 yrs.
M
Congenital anomalies
Congenital anomalies, Dysmorphism
31772797
32217725
444929
GRCh38
Duplication
No
shin_15_ASD/DD/ID_discovery_cases-case12
7 yrs.
M
Intellectual disability
Intellectual disability
Intellectual disability
31707428
32151842
444415
GRCh38
Duplication
Yes
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseI-1
N/A
M
Behavioral problems
Behavioral/psychiatric evaluation: alcoholism, drug addiction, abusive behavior to family members. Family history: multiple family members with a history of alcoholism; daughter (II-3) with history of developmental delay and medical history significant for bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; two grandsons (cases III-2 and III-3) presenting with PDD-NOS, anxiety disorder, and dysthymia.
31732549
31732549
1
GRCh38
Triplication
No
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseII-3
37 yrs.
F
Bipolar disorder, anxiety disorder, ADD, and epilepsy
Developmental milestones: history of developmental delay, did not walk until 2-3 years of age. Motor and musculoskeletal evaluation: fine resting tremor. Behavioral/psychiatric evaluation: bipolar disorder, anxiety disorder, attention deficit disorder (ADD). Epilepsy/seizures: seizures since her twenties. Dysmorphic features: bilateral prominent antihelices, bulbous nasal tip, mildly flat philtrum. Family history: monozygotic twin sons presenting with PDD-NOS, anxiety disorder, and dysthymia (cases III-2 and III-3); father with medical history significant for alcoholism, drug addiction, and abusive behaviors to family members (with multiple family members with history of alcoholism); mother (I-2) in good physical health with no cognitive impairment and no history of neuropsychiatric disease.
Learning disability
31732549
31732549
1
GRCh38
Triplication
No
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-2
10 yrs.
M
PDD-NOS, anxiety disorder, and dysthymia
Presented to genetics clinic for evaluation of intellectual disability and autistic behaviors. Birth/neonatal history: born as a monozygotic twin conceived naturally by a 26-year-old mother and 30-year-old father (both parents of Caucasian descent); born by spontaneous vaginal delivery at approximately 36 weeks gestation; birth weight of 1.955 kg (10th-25th %ile); hospitalized in NICU for 1 week for mild feeding difficulties. Developmental milestones: infancy and early childhood significant for speech delay, with active intervention speech therapy started at 2 years of age; motor development reported as normal. Motor and musculoskeletal evaluation: mild dysarthria, generalized hypotonia, poor balance, poor coordination when walking, no frank ataxia; bilateral 5th finger clinodactyly, single palmar crease on the left, generalized joint hypermobility. Behavioral/psychiatric evaluation: short attention span, low frustration tolerance, emotional profile significant for anxiety and depression; formal developmental and neuropsychiatric assessment (performed at age of 10 years 7 months) consistent with PDD-NOS, anxiety disorder, and dysthymia. Brain imaging: brain MRI performed at age of 10 years showed no anatomic abnormalities. Dysmorphic features: mild dysmorphic features; triangular face, hypertelorism (inner canthal distance 4 cm, >97th %ile), bilateral prominent antihelices, broad philtrum, high-arched palate. Growth parameters: head circumference of 55 cm (80th %ile), height of 145 cm (90th %ile), and weight of 41 kg (90th %ile). Family history: monozygotic twin brother with similar neuropsychiatric and cognitive phenotypes (caseIII-3); two maternal half-siblings reported as healthy with normal physical appearance and normal development; mother (II-3) with history of developmental delay and medical history significant for bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; maternal grandather (I-1)with medical history significant for alcoholism, drug addiction, and abusive behaviors to family members (with multiple family members with history of alcoholism); father (II-2) and maternal grandmother (I-2) in good physical health with no cognitive impairment and no history of neuropsychiatric disease.
Cognitive abilites in borderline range (full-scale IQ of 75 on Wechsler Intelligence Scale for Children IV); at time of examination, subject was in the fourth grade, enrolled in general and special education classes; able to follow two-step commands, but required constant repetition and redirection.
31732549
31732549
1
GRCh38
Triplication
Yes
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-3
10 yrs.
M
PDD-NOS, anxiety disorder, and dysthymia
Presented to clinic for evaluation of developmental delay and learning problems at age of 10 years. Birth/neonatal history: born as a monozygotic twin conceived naturally by a 26-year-old mother and 30-year-old father (both parents of Caucasian descent); born by spontaneous vaginal delivery at approximately 36 weeks gestation. Language and communication evaluation: language processing deficits, significantly more salient non-verbal than verbal functions, impaired language function. Motor and musculoskeletal evaluation: mild dysarthria, some coordination difficulties, generalized hypotonia. Behavioral/psychiatric evaluation: short attention span, impulsive behavior, aggressiveness to classmates, did not tolerate changes in routine; formal neuropsychological evaluation revealed PDD-NOS, anxiety disorder, and dysthymia. Brain imaging: head CT at age of 2 years revealed left middle cranial fossa arachnoid cyst, which was later confirmed by MRI at age of 10 years. Dysmorphic features: mild dysmorphic features similar to twin brother. Family history: monozygotic twin brother with similar neuropsychiatric and cognitive phenotypes (caseIII-2); two maternal half-siblings reported as healthy with normal physical appearance and normal development; mother (II-3) with history of developmental delay and medical history significant for bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; maternal grandather (I-1)with medical history significant for alcoholism, drug addiction, and abusive behaviors to family members (with multiple family members with history of alcoholism); father (II-2) and maternal grandmother (I-2) in good physical health with no cognitive impairment and no history of neuropsychiatric disease.
Borderline intellectual functioning (full-scale IQ of 84 on Wechsler Intelligence Scale for Children IV), with significantly more salient non-verbal than verbal functions, impaired language functions, impaired memory functions and impaired cognitive flexibility; able to follow one-, but not two-step commands; enrolled in special education classes.
31732549
31732549
1
GRCh38
Triplication
Yes
stamouli_18_ASD/NDD_discovery_cases-family29_Twin_1
N/A
N/A
ASD
Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group. Affected twin has ASD with full-scale IQ of 70, dyslexia, and mild macrocephaly (84th %ile); co-twin has mild macrocephaly (98th %ile), an IQ of 77, as well as a past history of mild language delay described as language impairments specific for ASD and lack of social reciprocity, pretend, or fantasy play (not observed at the time of assessment).
31057918
31084162
26245
GRCh38
Duplication
Yes
streata_22_ASD/DD/ID_discovery_cases-case56
NA
M
Developmental delay and intellectual disability
Global developmental delay, autism spectrum disorder, speech and/or language delay or impairment, congenital anomalies, facial dysmorphism.
Mild/moderate intellectual disability
31680442
32217725
537284
GRCh38
Duplication
Yes
streata_22_ASD/DD/ID_discovery_cases-case74
NA
M
ASD, developmental delay, and intellectual disability
Global developmental delay, autism spectrum disorder.
Severe intellectual disability
31772796
32150877
378082
GRCh38
Duplication
Yes
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
32241971
32515083
273113
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Bas1516
59
F
BPD
Age of onset: NA.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_BPD_discovery_cases-Sc7371
34
F
BPD
Age of onset: 22.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_cases-Sc4266
50
M
ID
Age of onset: 23.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_cases-Sc7430
66
F
ID
Age of onset: birth.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_cases-Sc7625
19
M
ID and ASD
Age of onset: 13. Also ASD.
30961627
32032276
1070650
GRCh38
Deletion
No
van_den_bossche_12_MDD_discovery_cases-Sc6810
23
M
MDD
Age of onset: 20.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_cases-Sc7027
45
M
MDD
Age of onset: 18.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Das18
25
M
SCZ
Age of onset: 16.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Das183
41
M
SCZ
Age of onset: 41.
31111723
31558410
446688
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Sc11110
31
M
SCZ
Age of onset: 22. Chronic schizophrenia.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Sc11510
71
M
SCZ
Age of onset: 33. Chronic schizophrenia.
30961627
32032276
1070650
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Sc3694
43
F
SCZ
Age of onset: 30.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Zas8999
56
F
SCZ
Age of onset: 19.
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Zas9020
52
M
SCZ
Age of onset: 24. Also alcohol dependence.
31803667
32032276
228610
GRCh38
Duplication
No
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient4
12
M
Autism
Autism, epilepsy, precocious puberty, muscle hypotonia, scoliosis, flat feet, genu valgity. Family history: brother with autism, paternal uncle with schizophrenia, maternal family history positive for intellectual disability (two cousins).
Mild intellectual disability (ID)
31926071
32153051
226981
GRCh38
Duplication
Yes
xu_16_ASD/DD/ID_discovery_cases-case8
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
29781532
32154629
2373098
GRCh38
Deletion
No
yingjun_17_ASD_discovery_cases-case1248
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
31711334
32151843
440510
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case477
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
32853510
33253897
400388
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1129-005
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
31711335
32151843
440509
GRCh38
Deletion
Yes
zhou_16_SCZ_discovery_cases-caseNSB3248
13 yrs.
F
Childhood-onset schizophrenia
Case diagnosed with schizophrenia after meeting criteria in the DSM-IIIR/DSM-IV before the age of 13 years. Birth/neonatal history: full-term but difficult pregnancy due to stressful evenrs and hyperemesis; vaginal delivery proceeded without further complications; birth weight of 3740 g (75th %ile), length of 50 cm (90th %ile). Developmental milestones: within normal limits. Behavioral/psychiatric evaluation: began exhibiting sudden-onset cognitive changes, immaturity, distractibility, and impaired social interactions, disrupting her ability to function at school, at age of 9 years; stopped speaking and communicated only in signs with little eye contact; diagnosed with schizophrenia at age of 10 years (visual and auditory hallucinations, severely worsening social impairment); additional psychotic behaviors, as well as flattened and inappropriate effect, when admitted to NIMH study at age of 12 years; exhibited more social interaction but still experienced hallucinations and exhibited occasional outbursts and inappropriate touching at school at 1-year follow-up. Brain imaging: normal. Dysmorphic features: none. Growth parameters: weight of 57.6 kg (92nd %ile), height of 157.2 cm (78th %ile), and OFC 75th-98th %ile at age of 10 years. Family history: third child of non-consanguineous parents; father who was 15q13.3 duplication carrier with no reported clinical diagnosis, though with a history of transient hallucinations and poor memory; two siblings who are also 15q13.3 duplication carriers (one with Tourette syndrome, the other with dyslexia; one male sibling too young to be tested for 15q13.3 duplication or any neurodevelopmental/neuropsychiatric phenotype.
Full scale IQ of 124 at age of 9 years
31720158
32223648
503491
GRCh38
Duplication
No
zhou_16_SCZ_discovery_cases-caseNSB852
32 yrs.
M
Childhood-onset schizophrenia
Case diagnosed with schizophrenia after meeting criteria in the DSM-IIIR/DSM-IV before the age of 13 years. Birth/neonatal history: uneventful pregnancy; exposure to tobacco (1 pack/day); vaginal delivery proceeded without complications; birth weight 3090 g (10th-25th %ile). Developmental milestones: within normal limits. Behavioral/psychiatric evaluation: witnessed significant domestic violenece from biological father from birth to age of 5 years; problems with hyperactivity, distractibility, and social impairment noted at school at age of 7 years; diagnosed with ADHD at age of 7 years (diagnostic tools N/A); hospitalized at age 11 for suicidal ideation, aggression towards peers, and threats of violence towards himself and others; diagnosed with major depression with psychotic symptoms at age of 11 years (visual and auditory hallucinations); re-hospitalized at age of 12 years for mood liability and vague aggression ideation; diagnosed with schizophrenia at this time (hysterical crying spells, complaints of being possessed by spirits or ghosts, and reports of feeling controlled by outside forces); severe social impairment; sleep disturbances; still experienced some visual hallucination when anxious in a 20-year follow-up. EEG: reported normal. Dysmorphic features: prominent ears, large hands and feet. Family history: proband was first child of non-consanguineous parents; father diagnosed with bipolar disorder and who had a history of alcohol abuse; one sibling diagnosed with ADHD who was a 15q13.3 duplication carrier.
Full scale IQ of 103 at age of 7 years
31727716
32327926
600211
GRCh38
Duplication
No
zhou_19_ASD_discovery_cases-caseAU032303
4 yrs. 6 mos.
M
ASD and ID
Diagnosis of ASD by ADI-R and ADOS. Developmental milestones: delayed speech and language development. Language and communication evaluation: almost no language. Behavioral/psychiatric evaluation: VABS standard score of 55, reduced sensitivity to pain, unusual sensory interests, hyperactivity, aggressive behavior, obsessive behavior. Additional medical history: rough skin. Family history: family history of developmental delay.
Intellectual disability
32028483
32170233
141751
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU044903
5 yrs. 2 mos.
M
ASD
Diagnosis of ASD by ADI-R and ADOS. Language and communication evaluation: speech and language delay and deficits. Motor and musculoskeletal evaluation: poor motor coordination, abnormal gait, suspected joint abnormality. Behavioral/psychiatric evaluation: hyperactivity, obsessive behavior, unusual sensory interests, hyper-responsivity to sensory stimuli. Family history: family history of language delay and epilepsy.
32028483
32170233
141751
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU096503
2 yrs. 9 mos.
M
ASD
Diagnosis of ASD by ADI-R and ADOS. Developmental milestones: developmental delay (delayed speech and language development). Languague and communication evaluation: language impairment. Behavioral/psychiatric evaluation: aggressive behavior. Family history: family history of intellectual disability.
32028483
32163385
134903
GRCh38
Duplication
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case1
16 yrs.
M
ASD and ID
Original reason for referral: developmental delay, intellectual disability. Developmental milestones: walking at 18 months; first word at 20 months; age of sitting, crawling, and two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 15 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 3 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: N/A. Behavioral Assessment for Children, Second Edition (BASC-2) results: not completed. History of seizures: no. History of hypotonia: no. Growth parameters: height <3rd %ile (Z score -3.6), weight <3rd %ile (Z score -5.39), OFC 58 %ile (Z score 0.2). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 43.5; NVRIQ, 41.7; FSRIQ, 42.5.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case10
14 yrs.
F
Depression and seizures
Original reason for referral: depression. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 15 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 1 (cutoff 3), Total D score of 3 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 96 (39th %ile, average qualitative range); Conceptual Composite Score of 91 (27th %ile, average qualitative range); Social Composite Score of 100 (50th %ile, average qualitative range); Practical Composite Score of 98 (45th %ile, average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 74 (%ile rank 97); Internalizing T score of 85 (%ile rank 99); Behavioral T score of 71 (%ile rank 96); Adaptive skills T score of 37 (%ile rank 11); Hyperactivity T score of 68 (%ile rank 93); Aggression T score of 64 (%ile rank 92); Conduct problems T score of 86 (%ile rank 98); Anxiety T score of 67 (%ile rank 94); Depression T score of 76 (%ile rank 97); Somatization T score of 95 (%ile rank 99); Atypicality T score of 84 (%ile rank 98); Withdrawal T score of 56 (%ile rank 79); Attention Problems T score of 52 (%ile rank 64); Adaptibility T score of 36 (%ile rank 10); Social skills T score of 43 (%ile rank 25); Leadership T score of 43 (%ile rank 24); Activities of daily living T score of (%ile rank ); Functional communication T score of 39 (%ile rank 16). History of seizures: absence seizures. History of hypotonia: no. Growth parameters: height 19th %ile (Z score -0.87), weight 66th %ile (Z score 0.42), OFC 93rd %ile (Z score 1.48). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 91.4; NVRIQ, 62.1; FSRIQ, 71.8.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case11
13 yrs.
M
ASD
Original reason for referral: ASD. Developmental milestones: sitting at 11 months, crawling at 12 months, walking at 13 months; first word at 13 months, 2 word sentences at 48 months. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 16 (cutoff 10), Total B verbal score of 16 (cutoff 8), Total C score of 8 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 60 (0.4th %ile, extremely low qualitative range); Conceptual Composite Score of 61 (0.5th %ile, extremely low qualitative range); Social Composite Score of 70 (2nd %ile, extremely low qualitative range); Practical Composite Score of 56 (0.2nd %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 57 (%ile rank 81); Internalizing T score of 69 (%ile rank 95); Behavioral T score of 62 (%ile rank 91); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 69 (%ile rank 95); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 49 (%ile rank 57); Anxiety T score of 78 (%ile rank 99); Depression T score of 73 (%ile rank 97); Somatization T score of 45 (%ile rank 35); Atypicality T score of 53 (%ile rank 73); Withdrawal T score of 62 (%ile rank 89); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 30 (%ile rank 4); Social skills T score of 39 (%ile rank 15); Leadership T score of 37 (%ile rank 10); Activities of daily living T score of 43 (%ile rank 23); Functional communication T score of 35 (%ile rank 9). History of seizures: no. History of hypotonia: no. Growth parameters: height 97th %ile (Z score 1.94), weight 96th %ile (Z score 1.76), OFC >99th %ile (Z score 3.62). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 84.9; NVRIQ, 80.4; FSRIQ, 81.9.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case13
15 yrs.
M
Behavioral problems
Original reason for referral: behavioral problems. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 9 (cutoff 10), Total B verbal score of 6 (cutoff 8), Total C score of 2 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of106 (66th %ile, average qualitative range); Conceptual Composite Score of 104 (61st %ile, average qualitative range); Social Composite Score of 106 (66th %ile, average qualitative range); Practical Composite Score of 98 (45th %ile, average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 63 (%ile rank 90); Internalizing T score of 48 (%ile rank 50); Behavioral T score of 59 (%ile rank 83); Adaptive skills T score of 36 (%ile rank 8); Hyperactivity T score of 71 (%ile rank 96); Aggression T score of 55 (%ile rank 75); Conduct problems T score of 58 (%ile rank 83); Anxiety T score of 44 (%ile rank 29); Depression T score of 52 (%ile rank 69); Somatization T score of 49 (%ile rank 55); Atypicality T score of 56 (%ile rank 80); Withdrawal T score of 42 (%ile rank 21); Attention Problems T score of 63 (%ile rank 88); Adaptibility T score of 42 (%ile rank 22); Social skills T score of 39 (%ile rank 15); Leadership T score of 39 (%ile rank 14); Activities of daily living T score of 32 (%ile rank 5); Functional communication T score of 37 (%ile rank 12). History of seizures: no. History of hypotonia: no. Growth parameters: height 17th %ile (Z score -0.97), weight 4th %ile (Z score -1.76), OFC 38th %ile (Z score -0.32). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 96; NVRIQ, 81; FSRIQ, 88.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case14
18 yrs.
M
Behavioral problems and seizures
Original reason for referral: oppositional and aggressive behavior, defiant behavior. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: N/A. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 48 (<0.1st %ile, extremely low qualitative range); Conceptual Composite Score of 55 (0.1st %ile, extremely low qualitative range); Social Composite Score of 55 (0.1st %ile, extremely low qualitative range); Practical Composite Score of 50 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 93 (%ile rank 99); Internalizing T score of 62 (%ile rank 89); Behavioral T score of 87 (%ile rank 99); Adaptive skills T score of 32 (%ile rank 1); Hyperactivity T score of 99 (%ile rank 99); Aggression T score of 84 (%ile rank 99); Conduct problems T score of 83 (%ile rank 99); Anxiety T score of 57 (%ile rank 79); Depression T score of 76 (%ile rank 97); Somatization T score of 46 (%ile rank 40); Atypicality T score of 73 (%ile rank 96); Withdrawal T score of 65 (%ile rank 91); Attention Problems T score of 72 (%ile rank 98); Adaptibility T score of 28 (%ile rank 2); Social skills T score of 35 (%ile rank 7); Leadership T score of 27 (%ile rank 1); Activities of daily living T score of 22 (%ile rank 1); Functional communication T score of 25 (%ile rank 1). History of seizures: generalized tonic-clonic seizures. History of hypotonia: no. Growth parameters: height 43rd %ile (Z score -0.17), weight 62nd %ile (Z score 0.32), OFC 12th %ile (Z score -1.15). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 76; NVRIQ, 61; FSRIQ, 67.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case15
14 yrs.
F
ID and ADHD
Original reason for referral: mild intellectual disability, ADHD, anxiety, depression, hypothyroidism. Developmental milestones: sitting at 7 months, crawling at `0 months, walking at 16 months; first word at 24 months, 2 word sentences at 30 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 7 (cutoff 10), Total B verbal score of 12 (cutoff 8), Total C score of 4 (cutoff 3), Total D score of 3 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 63 (1st %ile, extremely low qualitative range); Conceptual Composite Score of67 (1st %ile, extremely low qualitative range); Social Composite Score of 75 (5th %ile, borderline qualitative range); Practical Composite Score of 54 (1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 58 (%ile rank 81); Internalizing T score of 88 (%ile rank 99); Behavioral T score of 76 (%ile rank 98); Adaptive skills T score of 27 (%ile rank 2); Hyperactivity T score of 74 (%ile rank 97); Aggression T score of 46 (%ile rank 39); Conduct problems T score of 50 (%ile rank 60); Anxiety T score of 79 (%ile rank 99); Depression T score of 79 (%ile rank 99); Somatization T score of 86 (%ile rank 99); Atypicality T score of 75 (%ile rank 97); Withdrawal T score of 68 (%ile rank 95); Attention Problems T score of 77 (%ile rank 99); Adaptibility T score of 38 (%ile rank 13); Social skills T score of 41 (%ile rank 20); Leadership T score of 29 (%ile rank 1); Activities of daily living T score of 18 (%ile rank 1); Functional communication T score of 29 (%ile rank 3). History of seizures: no. History of hypotonia: yes. Growth parameters: height 74th %ile (Z score 0.64), weight 85th %ile (Z score 1.05), OFC 75th %ile (Z score 0.69). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 62.8; NVRIQ, 69.79; FSRIQ, 67.46.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case17
14 yrs.
M
Depression
Original reason for referral: ASD, depression, no risk/danger appreciation, suicidal ideation. Developmental milestones: sitting at 14 months, crawling at 18 months, walking at 24 months; first word at 18 months, 2 word sentences at 36 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 18 (cutoff 10), Total B verbal score of 16 (cutoff 8), Total C score of 1 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 73 (4th %ile, borderline qualitative range); Conceptual Composite Score of 78 (7th %ile, borderline qualitative range); Social Composite Score of 70 (2nd %ile, extremely low qualitative range); Practical Composite Score of 80 (9th %ile,below average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 67 (%ile rank 94); Internalizing T score of 92 (%ile rank 99); Behavioral T score of 73 (%ile rank 97); Adaptive skills T score of 31 (%ile rank 4); Hyperactivity T score of 68 (%ile rank 94); Aggression T score of 55 (%ile rank 75); Conduct problems T score of 73 (%ile rank 96); Anxiety T score of 79 (%ile rank 99); Depression T score of 71 (%ile rank 96); Somatization T score of 104 (%ile rank 99); Atypicality T score of 63 (%ile rank 90); Withdrawal T score of 88 (%ile rank 99); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 49 (%ile rank 44); Social skills T score of 35 (%ile rank 7); Leadership T score of 25 (%ile rank 1); Activities of daily living T score of 34 (%ile rank 7); Functional communication T score of 27 (%ile rank 2). History of seizures: no. History of hypotonia: no. Growth parameters: height 11th %ile (Z score -1.24), weight 56th %ile (Z score 0.15), OFC 30th %ile (Z score -0.51). Family history: adopted, known to have an affected brother. 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 64.79; NVRIQ, 56.57; FSRIQ, 59.31.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case18
14 yrs.
M
ID and ADHD
Original reason for referral: mild intellectual disability, ADHD. Developmental milestones: sitting at 12 months, crawling at 13 months, walking at 17 months; first word at 48 months, 2 word sentences at 60 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 6 (cutoff 10), Total B verbal score of 11 (cutoff 8), Total C score of 2 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 40 (1st %ile,extremely low qualitative range); Conceptual Composite Score of 14 (2nd %ile, extremely low qualitative range); Social Composite Score of 14 (19th %ile, below average qualitative range); Practical Composite Score of 12 (0.2nd %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 53 (%ile rank 68); Internalizing T score of 61 (%ile rank 87); Behavioral T score of 57 (%ile rank 78); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 56 (%ile rank 76); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 49 (%ile rank 57); Anxiety T score of 50 (%ile rank 55); Depression T score of 50 (%ile rank 60); Somatization T score of 76 (%ile rank 98); Atypicality T score of 56 (%ile rank 80); Withdrawal T score of 52 (%ile rank 64); Attention Problems T score of 66 (%ile rank 93); Adaptibility T score of 43 (%ile rank 24); Social skills T score of 43 (%ile rank 27); Leadership T score of 37 (%ile rank 10); Activities of daily living T score of 27 (%ile rank 1); Functional communication T score of 34 (%ile rank 7). History of seizures: no. History of hypotonia: no. Growth parameters: height 61st %ile (Z score 0.28), weight 90th %ile (Z score 1.26), OFC >99th %ile (Z score 2.99). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 38; NVRIQ, 35; FSRIQ, 36.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case2
13 yrs.
M
ASD and ID
Original reason for referral: mild developmental delay, intellectual disability. Developmental milestones: age of sitting, crawling, walking, first word, and two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 19 (cutoff 10), Total B verbal score of 12 (cutoff 8), Total C score of 3 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 57 (0.2th %ile, extremely low qualitative range); Conceptual Composite Score of 65 (1st %ile, extremely low qualitative range); Social Composite Score of 68 (2nd %ile, extremely low qualitative range); Practical Composite Score of 48 (<0.1th %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 47 (%ile rank 44); Internalizing T score of 41 (%ile rank 16); Behavioral T score of 58 (%ile rank 80); Adaptive skills T score of 33 (%ile rank 5); Hyperactivity T score of 50 (%ile rank 57); Aggression T score of 47 (%ile rank 47); Conduct problems T score of 44 (%ile rank 29); Anxiety T score of 41 (%ile rank 17); Depression T score of 45 (%ile rank 39); Somatization T score of 41 (%ile rank 16); Atypicality T score of 57 (%ile rank 81); Withdrawal T score of 81 (%ile rank 99); Attention Problems T score of 55 (%ile rank 70); Adaptibility T score of 39 (%ile rank 16); Social skills T score of 29 (%ile rank 1); Leadership T score of 31 (%ile rank 2); Activities of daily living T score of 40 (%ile rank 17); Functional communication T score of 37 (%ile rank 11). History of seizures: reported staring spells. History of hypotonia: no. Growth parameters: height 34th %ile (Z score -0.42), weight 68th %ile (Z score 0.46), OFC 95th %ile (Z score 1.64). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 68; NVRIQ, 83; FSRIQ, 75.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case3
14 yrs.
M
ID
Original reason for referral: mild intellectual disability. Developmental milestones: sitting at 12 months, walking at 36 months; first word at 18 months, 2 word sentences at 36 months; age of crawling unknown. ADOS Summary: autism/ASD. ADI-R summary: not autism/ASD; Total A score of 7 (cutoff 10), Total B verbal score of 7 (cutoff 8), Total C score of 3 (cutoff 3), Total D score of 3 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 68 (2nd %ile, extremely low qualitative range); Conceptual Composite Score of 70 (2nd %ile, extremely low qualitative range); Social Composite Score of 87 (19th %ile, below average qualitative range); Practical Composite Score of 62 (1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 59 (%ile rank 84); Internalizing T score of 68 (%ile rank 95); Behavioral T score of 66 (%ile rank 93); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 58 (%ile rank 82); Aggression T score of 64 (%ile rank 90); Conduct problems T score of 53 (%ile rank 72); Anxiety T score of 70 (%ile rank 96); Depression T score of 69 (%ile rank 95); Somatization T score of 54 (%ile rank 73); Atypicality T score of 56 (%ile rank 80); Withdrawal T score of 62 (%ile rank 89); Attention Problems T score of 66 (%ile rank 93); Adaptibility T score of 35 (%ile rank 8); Social skills T score of 39 (%ile rank 15); Leadership T score of 42 (%ile rank 22); Activities of daily living T score of 31 (%ile rank 4); Functional communication T score of 40 (%ile rank 18). History of seizures: no. History of hypotonia: yes. Growth parameters: height 62nd %ile (Z score 0.3), weight 99th %ile (Z score 2.45), OFC 99th %ile (Z score 2.28). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 67; NVRIQ, 50; FSRIQ, 56.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case5
12 yrs.
F
Bipolar disorder
Original reason for referral: bipolar disorder. Developmental milestones: sitting at 6 months, crawling at 9 months, walking at 16 months; first word at 14 months; age of two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: N/A. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: N/A. Behavioral Assessment for Children, Second Edition (BASC-2) results: not completed. History of seizures: no. History of hypotonia: no. Growth parameters: height 92nd %ile (Z score 1.42), weight 99th %ile (Z score 2.46), OFC 98th %ile (Z score 2.14). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 101; NVRIQ, 95; FSRIQ, 97.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case6
15 yrs.
F
ID
Original reason for referral: mild intellectual disability. Developmental milestones: sitting at 11 months, crawling at 14 months, walking at 17 months; first word at 40 months, 2 word sentences at 60 months. ADOS Summary: not autism or ASD. ADI-R summary: not autism/ASD; Total A score of 16 (cutoff 10), Total B verbal score of 15 (cutoff 8), Total C score of 0 (cutoff 3), Total D score of 4 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 78 (7th %ile, borderline qualitative range); Conceptual Composite Score of 84 (14th %ile, below average qualitative range); Social Composite Score of 84 (14th %ile, below average qualitative range); Practical Composite Score of 82 (12th %ile, below average qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 46 (%ile rank 39); Internalizing T score of 41 (%ile rank 17); Behavioral T score of 51 (%ile rank 61); Adaptive skills T score of 33 (%ile rank 5); Hyperactivity T score of 51 (%ile rank 64); Aggression T score of 44 (%ile rank 30); Conduct problems T score of 44 (%ile rank 34); Anxiety T score of 49 (%ile rank 50); Depression T score of 41 (%ile rank 18); Somatization T score of 37 (%ile rank 4); Atypicality T score of 45 (%ile rank 42); Withdrawal T score of 68 (%ile rank 94); Attention Problems T score of 57 (%ile rank 76); Adaptibility T score of 50 (%ile rank 47); Social skills T score of 35 (%ile rank 8); Leadership T score of 32 (%ile rank 4); Activities of daily living T score of 33 (%ile rank 6); Functional communication T score of 29 (%ile rank 3). History of seizures: no. History of hypotonia: yes. Growth parameters: height 6th %ile (Z score -1.52), weight 35th %ile (Z score -0.37), OFC 27th %ile (Z score -0.6). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 35; NVRIQ, 53; FSRIQ, 39.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case7
13 yrs.
M
Behavioral problems and seizures
Original reason for referral: abnormal behavior. Developmental milestones: sitting at 10 months, walking at 24 months; first word at 48 months; age of crawling and two word sentences unknown. ADOS Summary: not autism or ASD. ADI-R summary: autism/ASD; Total A score of 19 (cutoff 10), Total B verbal score of 19 (cutoff 8), Total C score of 7 (cutoff 3), Total D score of 5 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 40 (<0.1st %ile, extremely low qualitative range); Conceptual Composite Score of 49 (<0.1st %ile, extremely low qualitative range); Social Composite Score of 55 (0.1st %ile, extremely low qualitative range); Practical Composite Score of 40 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 67 (%ile rank 94); Internalizing T score of 39 (%ile rank 11); Behavioral T score of 70 (%ile rank 96); Adaptive skills T score of 27 (%ile rank 1); Hyperactivity T score of 84 (%ile rank 99); Aggression T score of 52 (%ile rank 67); Conduct problems T score of 61 (%ile rank 88); Anxiety T score of 31 (%ile rank 1); Depression T score of 48 (%ile rank 52); Somatization T score of 45 (%ile rank 35); Atypicality T score of 63 (%ile rank 89); Withdrawal T score of 76 (%ile rank 98); Attention Problems T score of 71 (%ile rank 99); Adaptibility T score of 49 (%ile rank 43); Social skills T score of 37 (%ile rank 10); Leadership T score of 25 (%ile rank 1); Activities of daily living T score of 20 (%ile rank 1); Functional communication T score of 19 (%ile rank 1). History of seizures: abesnce seizures. History of hypotonia: no. Growth parameters: height 44th %ile (Z score -0.16), weight 85th %ile (Z score 1.04), OFC 99th %ile (Z score 2.53). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 27; NVRIQ, 25; FSRIQ, 26.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case8
12 yrs.
M
ASD, ID, and ADHD
Original reason for referral: developmental delay, intellectual disability, ADHD. Developmental milestones: sitting at 10 months, crawling at 12 months, walking at 20 months; first word at 13 months; age of two word sentences unknown. ADOS Summary: autism/ASD. ADI-R summary: autism/ASD; Total A score of 14 (cutoff 10), Total B verbal score of 16 (cutoff 8), Total C score of 4 (cutoff 3), Total D score of 5 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): yes. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 51 (0.1st %ile, extremely low qualitative range); Conceptual Composite Score of 57 (0.2nd %ile, extremely low qualitative range); Social Composite Score of 66 (1st %ile, extremely low qualitative range); Practical Composite Score of 46 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 55 (%ile rank 77); Internalizing T score of 50 (%ile rank 55); Behavioral T score of 57 (%ile rank 78); Adaptive skills T score of 35 (%ile rank 7); Hyperactivity T score of 64 (%ile rank 90); Aggression T score of 54 (%ile rank 73); Conduct problems T score of 47 (%ile rank 48); Anxiety T score of 44 (%ile rank 29); Depression T score of 44 (%ile rank 32); Somatization T score of 61 (%ile rank 86); Atypicality T score of 50 (%ile rank 64); Withdrawal T score of 62 (%ile rank 89); Attention Problems T score of 58 (%ile rank 77); Adaptibility T score of 39 (%ile rank 15); Social skills T score of 47 (%ile rank 42); Leadership T score of 33 (%ile rank 5); Activities of daily living T score of 31 (%ile rank 4); Functional communication T score of 34 (%ile rank 7). History of seizures: no. History of hypotonia: no. Growth parameters: height 3rd %ile (Z score -1.96), weight 77th %ile (Z score 0.74), OFC 41st %ile (Z score -0.21). Family history: unknown (adopted). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 25; NVRIQ, 30; FSRIQ, 25.
N/A
N/A
N/A
GRCh37
Deletion
Yes
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case9
12 yrs.
M
ID
Original reason for referral: intellectual disability. Developmental milestones: sitting at 9 months, crawling at months, walking at 24 months; first word at 17 months, 2 word sentences at 54 months; age of crawling unknown. ADOS Summary: not autism or ASD. ADI-R summary: autism/ASD; Total A score of 25 (cutoff 10), Total B verbal score of 20 (cutoff 8), Total C score of 9 (cutoff 3), Total D score of 5 (cutoff 1). Strictest Diagnosis of Autism (positive on ADOS and ADI-R): no. Adaptive Behavior Assessment System, Second Edition (ABAS-II) results: GAC Composite Score of 59 (0.3rd %ile, extremely low qualitative range); Conceptual Composite Score of 69 (2nd %ile, extremely low qualitative range); Social Composite Score of 68 (2nd %ile, extremely low qualitative range); Practical Composite Score of 48 (<0.1st %ile, extremely low qualitative range). Behavioral Assessment for Children, Second Edition (BASC-2) results: Externalizing T-score of 68 (%ile rank 95); Internalizing T score of 76 (%ile rank 98); Behavioral T score of 80 (%ile rank 99); Adaptive skills T score of 30 (%ile rank 3); Hyperactivity T score of 66 (%ile rank 93); Aggression T score of 75 (%ile rank 97); Conduct problems T score of 59 (%ile rank 85); Anxiety T score of 59 (%ile rank 82); Depression T score of 84 (%ile rank 99); Somatization T score of 70 (%ile rank 95); Atypicality T score of 75 (%ile rank 97); Withdrawal T score of 76 (%ile rank 98); Attention Problems T score of 66 (%ile rank 93); Adaptibility T score of 28 (%ile rank 2); Social skills T score of 39 (%ile rank 15); Leadership T score of 40 (%ile rank 18); Activities of daily living T score of 24 (%ile rank 1); Functional communication T score of 32 (%ile rank 5). History of seizures: no. History of hypotonia: no. Growth parameters: height 54th %ile (Z score 0.09), weight 96th %ile (Z score 1.73), OFC 44th %ile (Z score 0.16). 15q13.3 microdeletion breakpoints: BP4-BP5.
Differential Ability Scales-II results: VRIQ, 85; NVRIQ, 67; FSRIQ, 73.
N/A
N/A
N/A
GRCh37
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10058
N/A
F
Control
Control
31812161
32125837
313677
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_controls-control10061
N/A
F
Control
Control
31774872
32222140
447269
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_controls-control10116
N/A
M
Control
Control
31756922
32222140
465219
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_controls-control10471
N/A
F
Control
Control
31884101
32222140
338040
GRCh38
Duplication
No
chen_17_ASD_discovery_controls1-control3
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
32166460
32565269
398810
GRCh38
Duplication
chen_17_ASD_discovery_controls1-control4
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
32166460
32565269
398810
GRCh38
Deletion
chen_17_ASD_discovery_controls1-control5
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
32166460
32565269
398810
GRCh38
Deletion
chen_17_ASD_discovery_controls1-control6
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
32166460
32565269
398810
GRCh38
Deletion
chen_17_ASD_discovery_controls1-control7
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
32166460
32565269
398810
GRCh38
Deletion
chen_17_ASD_discovery_controls1-control8
N/A
N/A
Control
Subject received physical check-up and questionnaire screening to ensure that he/she did not have any abnormal physical condition and mental illness.
32166460
32565269
398810
GRCh38
Deletion
girirajan_12_ASD/DD/ID_discovery_controls-control26
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control27
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control28
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control29
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control30
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control31
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control32
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control33
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control34
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control35
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control36
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control37
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control38
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control39
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control40
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control41
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control42
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control43
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control44
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control45
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control46
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control47
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control48
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control49
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control50
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control51
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control52
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control53
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control54
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control55
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control56
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control57
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control58
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control59
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control60
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control61
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control62
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control63
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control64
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control65
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control66
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control67
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control68
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control69
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control70
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control71
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control72
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control73
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control74
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control75
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control76
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_12_ASD/DD/ID_discovery_controls-control77
NA
NA
Control
NA
NA
31720505
32160507
440003
GRCh38
Duplication
NA
girirajan_13b_ASD_discovery_controls-15607108080
N/A
N/A
Control
Ethnicity: Hispanic
N/A
31147883
31350196
202314
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-15607108080
N/A
N/A
Control
Ethnicity: Hispanic
N/A
31145140
31360288
215149
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-24809111471
N/A
N/A
Control
Ethnicity: Hispanic
N/A
31647297
32146043
498747
GRCh38
Duplication
No
guo_17_ASD_discovery_controls-controlPY2562
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
30939052
32222725
1283674
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split1069
N/A
N/A
Control
Control 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
32510510
32620127
109618
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1797
N/A
N/A
Control
Control 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
32051488
32514341
462854
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split341
N/A
N/A
Control
Control 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
32087882
32620127
532246
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12833.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12833. SRS score of 49.
32030897
32111899
81003
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13487.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13487. SRS score of 38.
31064707
31076921
12215
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11197.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31064707
31076921
12215
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11341.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13106.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13487.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31064707
31076921
12215
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14186.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31063117
31076921
13805
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14232.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14268.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32030897
32111899
81003
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14280.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31060543
31076921
16379
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14491.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
32030897
32111899
81003
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1167
33 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
31917063
32434672
517610
GRCh38
Deletion
N/A
poultney_13_ASD_discovery_controls-control04C28197A
N/A
F
Control
NIMH Control (NIMH ID 54460)
32030896
32157777
126882
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C37985A
N/A
F
Control
NIMH Control (NIMH ID 75535)
32030896
32163337
132442
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11197.s1
7.8
M
Control (matched sibling)
NA
NA
31064222
31092594
28373
GRCh38
Deletion
No
van_den_bossche_12_BPD_discovery_controls-Sc11009
23
M
Control
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_ID_discovery_controls-Sc11009
23
M
Control
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_MDD_discovery_controls-Sc11009
23
M
Control
31803667
32032276
228610
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_controls-Sc11009
23
M
Control
31803667
32032276
228610
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ahn_13_SCZ_discovery_cases-NSB_ID1546
array SNP, aCGH, and/or qPCR
De novo
Unknown
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
ahn_13_SCZ_discovery_cases-NSB_ID498
Validation based on familial presence of CNV
Maternal
Unknown
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P1,LINC02256,GOLGA8N,CHRNA7,ARHGAP11A
akter_23_ASD/ADHD/DD/ID_discovery_cases-case13
Unknown
CHRNA7,OTUD7A,DEPDC1P1
akter_23_ASD/ADHD/DD/ID_discovery_cases-case15
Unknown
CHRNA7,OTUD7A,DEPDC1P1
akter_23_ASD/ADHD/DD/ID_discovery_cases-case207
Unknown
CHRNA7,OTUD7A,DEPDC1P1
bacchelli_15_ASD_discovery_cases-case3474_3
Solid phase hybridization (Illumina 1M-Duo)
Paternal
Possible multi-generational
Unknown
OTUD7A,CHRNA7
bartnik_12_EP_discovery_cases-case23
Maternal
CHRNA7
beal_13_ASD_discovery_cases-case1
FISH
Unknown
Unknown
Unknown
N/A
ben-shacher_09_ASD_discovery_cases-caseF12-1
FISH
Maternal
Multiplex
Segregated
ben-shacher_09_ASD_discovery_cases-caseF12-2
FISH
Maternal
Multiplex
Segregated
ben-shacher_09_ASD_discovery_cases-caseF2-1
FISH
Unknown
NA
NA
ben-shacher_09_ASD_discovery_cases-caseF8-1
FISH
Unknown
Multiplex
NA
ben-shacher_09_ASD_discovery_cases-caseF9-1
FISH
Unknown
NA
NA
ben-shacher_09_non-ASD_discovery_cases-caseF10-1
FISH
Paternal
Multiplex (siblings with learning disability)
Not segregated
ben-shacher_09_non-ASD_discovery_cases-caseF11-1
FISH
Paternal
NA
NA
ben-shacher_09_non-ASD_discovery_cases-caseF3-1
FISH
De novo
NA
NA
ben-shacher_09_non-ASD_discovery_cases-caseF4-1
FISH
Maternal
NA
NA
ben-shacher_09_non-ASD_discovery_cases-caseF5-1
FISH
Maternal
NA
NA
ben-shacher_09_non-ASD_discovery_cases-caseF6-1
FISH
Paternal
NA
NA
ben-shacher_09_non-ASD_discovery_cases-caseF7-1
FISH
Unknown
NA
NA
ben-shacher_09_non-ASD_discovery_cases-caseF8-2
FISH
Unknown
Multiplex
NA
bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient5
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
budisteanu_21_ASD/DD/ID_discovery_cases-case1
Unknown
CHRNA7,OTUD7A,DEPDC1P1
budisteanu_21_ASD/DD/ID_discovery_cases-case2
Unknown
CHRNA7,OTUD7A
budisteanu_21_ASD/DD/ID_discovery_cases-case3
Unknown
CHRNA7,OTUD7A,DEPDC1P1
budisteanu_21_ASD/DD/ID_discovery_cases-case4
Unknown
Multiplex
CHRNA7,OTUD7A,DEPDC1P1
budisteanu_21_ASD/DD/ID_discovery_cases-case5
Unknown
Multiplex
CHRNA7,OTUD7A,DEPDC1P1
celestino-soper_11_ASD_discovery_cases-11178
Solid phase hybridization (Illumina 1M SNP)
De novo
Simplex
NA
CHRNA7
chen_17_ASD_discovery_cases-caseU-1850
RT-qPCR
Maternal
HNRNPA1P71,TMCO5B,FMN1
chen_17_ASD_discovery_cases-caseU-2158
RT-qPCR
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
chen_21_ASD/DD/ID_discovery_cases-case18
Unknown
DEPDC1P1,OTUD7A,CHRNA7
chilian_13_DD/ID_discovery_cases-case1
qPCR
Paternal
Possibly simplex (no info on 1st child)
Unknown
OTUD7A,CHRNA7
christian_08_ASD_discovery_cases-AU052003
FISH, microsatellite
inherited
Multiplex
NA
MIR211,LINC02352,KLF13,TRPM1
cucinotta_23_ASD_discovery_cases-case135
Paternal
CHRNA7,OTUD7A,DEPDC1P1
cucinotta_23_ASD_discovery_cases-case328
Maternal
CHRNA7,OTUD7A,DEPDC1P1
cucinotta_23_ASD_discovery_cases-case329
Maternal
CHRNA7,OTUD7A,DEPDC1P1
digregorio_17_DD/ID_discovery_cases-DECIPHER_299973
Unknown
OTUD7A,CHRNA7
digregorio_17_DD/ID_discovery_cases-DECIPHER_300212
Maternal
OTUD7A,CHRNA7
digregorio_17_DD/ID_discovery_cases-DECIPHER_300527
Paternal
OTUD7A,CHRNA7
digregorio_17_DD/ID_discovery_cases-DECIPHER_300534
Paternal
OTUD7A,CHRNA7
digregorio_17_DD/ID_discovery_cases-DECIPHER_301271
Paternal
OTUD7A,CHRNA7
du_21_ASD/DD/ID_discovery_cases-case453
Unknown
CHRNA7,OTUD7A,DEPDC1P1
egger_14_ASD_discovery_cases-caseA2
qPCR
Paternal
Unknown
OTUD7A,CHRNA7
feliciano_19_ASD_discovery_cases-caseSP0000759
Paternal
Simplex
MIR211,TRPM1
null
feliciano_19_ASD_discovery_cases-caseSP0013984
Maternal
MIR211,TRPM1
null
firouzabadi_16_ASD_discovery_cases-patient3
Paternal
Simplex
Unknown
OTUD7A,CHRNA7
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739
Maternal
Simplex
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,OTUD7A,CHRNA7
fry_16_DD/ID/EP/ASD_discovery_cases-caseR528
Solid phase hybridization (Illumina)
Unknown
OTUD7A,CHRNA7
fry_16_DD/ID/EP/ASD_discovery_cases-caseR650
Unknown
OTUD7A,CHRNA7
gazzellone_14_ASD_discovery_cases-case534-3
Unknown
Unknown
Unknown
CHRNA7
ghasemi_firouzabadi_16_ASD_discovery_cases-p35
Paternal
Simplex
Unknown
N/A
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient1
MLPA
Maternal
Multi-generational
Not segregated or incomplete segregation
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient10
MLPA
Paternal
Simplex
Unknown
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient11
MLPA
Paternal
Multi-generational
Not segregated or incomplete segregation
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient12
MLPA
Unknown
Unknown
Unknown
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient13
MLPA
Paternal
Multi-generational
Not segregated or incomplete segregation
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient14
MLPA
Maternal
Multi-generational
Not segregated or incomplete segregation
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient15
MLPA
Paternal
Multi-generational
Segregated
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient17
MLPA
Paternal
Multiplex
Segregated
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient18
MLPA
Maternal
Multi-generational
Not segregated or incomplete segregation
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient2
MLPA
Maternal
Multi-generational
Segregated
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient3
MLPA
Maternal
Multi-generational
Not segregated or incomplete segregation
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient5
MLPA
Paternal
Multiplex
Segregated
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6
MLPA
Paternal
Simplex
Unknown
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7
MLPA
Maternal
Simplex
Unknown
CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient8
MLPA
Paternal
Multi-generational
Segregated
OTUD7A,CHRNA7
gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient9
MLPA
Maternal
Simplex
Unknown
OTUD7A,CHRNA7
girirajan_11_ASD_discovery_cases-Si129
Unknown
Simplex
OTUD7A,CHRNA7
girirajan_11_ASD_discovery_cases-Si229
Unknown
Simplex
OTUD7A,CHRNA7
girirajan_11_ASD_discovery_cases-Si82
Unknown
Simplex
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0681
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0682
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0683
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0684
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0685
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0686
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0687
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0688
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0689
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0690
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0691
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0692
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0693
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0694
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0695
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0696
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0697
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0698
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0699
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0700
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0701
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0702
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0703
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0704
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0705
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0706
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0707
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0708
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0709
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0710
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0711
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0712
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0713
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0714
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0715
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0716
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0717
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0718
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0719
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0720
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0721
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0722
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0723
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0724
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0725
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0726
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0727
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0728
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0729
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0730
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0731
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0732
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0733
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0734
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0735
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0736
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0737
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0738
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0739
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0740
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0741
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0742
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0743
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0744
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0745
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0746
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0747
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0748
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0749
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0750
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0751
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0752
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0753
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0754
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0755
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0756
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0757
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0758
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0759
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0760
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0761
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0762
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0763
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0764
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0765
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0766
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0767
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0768
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0769
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0770
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0771
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0772
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0773
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0774
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0775
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0776
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0777
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0778
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0779
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0780
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0781
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0782
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0783
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0784
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0785
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0786
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0787
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0788
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0789
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0790
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0791
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0792
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0793
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0794
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0795
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0796
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0797
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0798
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0799
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0800
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0801
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0802
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0803
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0804
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0805
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0806
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0807
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0808
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0809
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0810
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0811
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case0812
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case28304
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case31441
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case38091
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case40242
FISH, aCGH, or confirmation by inheritance
Paternal
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_cases-case46810
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_13a_ASD_discovery_cases-13686.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR211,TRPM1
girirajan_13a_ASD_discovery_cases-AU0316301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
MIR211,TRPM1
girirajan_13a_ASD_discovery_cases-AU079904
aCGH (NimbleGen 135K array)
Both parents
Multiplex
Unknown
MIR211,TRPM1
girirajan_13a_ASD_discovery_cases-AU1006301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
TRPM1
girirajan_13a_ASD_discovery_cases-AU2275301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
MIR211,TRPM1
girirajan_13b_ASD_discovery_cases-10609111027
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_13b_ASD_discovery_cases-10609111027
Unknown
Unknown
Unknown
RNU6-18P,OTUD7A,CHRNA7
girirajan_13b_ASD_discovery_cases-9106105625
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
gorker_18_ASD_discovery_cases-case20
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
handrigan_13_ASD/DD/ID_discovery_cases-patient32
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
han_22_ASD/DD/ID_discovery_cases-caseY90
Paternal
CHRNA7,OTUD7A,DEPDC1P1
hnoonual_17_ASD_discovery_cases-caseRA29
Unknown (not paternal)
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandA
FISH
Paternal
Extended
Possibly segregated
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandF
FISH
Paternal (unconfirmed)
Multiplex
Segregated
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandK
FISH
Unknown (negative paternal testing)
Unknown
Unknown
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandL
FISH
Unknown
Unknown
Unknown
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandM
FISH
De novo
Unknown
Possibly segregated
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandN
FISH
Maternal
Unknown
Unknown
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandO
FISH
Paternal
Unknown
Unknown
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandR
FISH
Unknown
Unknown
Unknown
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandS
FISH
Unknown
Unknown
Unknown
CHRNA7
hoppman-chaney_12_CHRNA7_discovery_cases-probandT
FISH
Unknown
Unknown
Unknown
CHRNA7
hu_22_ASD_discovery_cases-case7
Unknown
CHRNA7,OTUD7A
kamien_14_ASD_discovery_cases-case2
Unknown
Multi-generational
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000593
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002161
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002262
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002507
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003877
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
OTUD7A,CHRNA7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004441
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-18P,OTUD7A,CHRNA7
krumm_13_ASD_discovery_cases-case12833.p1
Paternal
Simplex
Not segregated
CHRNA7
krumm_15_ASD_discovery_cases-case11298.p1
Illumina 1M
Maternal
Simplex
Segregated
CHRNA7
krumm_15_ASD_discovery_cases-case12219.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
CHRNA7
krumm_15_ASD_discovery_cases-case13661.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CHRNA7
krumm_15_ASD_discovery_cases-case14086.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CHRNA7
krumm_15_ASD_discovery_cases-case14125.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CHRNA7
krumm_15_ASD_discovery_cases-case14213.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CHRNA7
krumm_15_ASD_discovery_cases-case14268.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CHRNA7
leblond_12_ASD_discovery_cases-AUGB038_3
Maternal
Simplex
OTUD7A,CHRNA7
leblond_12_ASD_replication_cases-Pintocase5237_3
aCGH (Agilent 1M)
Paternal
OTUD7A,CHRNA7
lintas_17_ASD_discovery_cases-case13.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Not segregated (CNV only observed in 1/2 affected siblings)
OTUD7A,CHRNA7
lintas_17_ASD_discovery_cases-case5.1
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Segregated (CNV observed in all both affected siblings)
OTUD7A,CHRNA7
lintas_17_ASD_discovery_cases-case5.2
Validation by visual inspection, RT-PCR, or PCR
Paternal
Multiplex
Segregated (CNV observed in all both affected siblings)
OTUD7A,CHRNA7
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case3
Unknown
OTUD7A,CHRNA7
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Unknown
Simplex
Unknown
li_18_ASD_discovery_cases-case4601
Unknown
Simplex
Unknown
OTUD7A,CHRNA7
lob_24_ASD_discovery_cases-caseASD408
Unknown
CHRNA7,OTUD7A,DEPDC1P1
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case1
FISH
Possibly paternal
Unknown
Multi-generational
Incomplete segregation
RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case5
Unknown
Simplex
Unknown
Approximate gene content: LOC100288637, HERC2P10, MTMR10, FAN1, TRPM1, MIR211, LOC283710, KLF13, OTUD7A, CHRNA7
lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case6
Unknown
Multi-generational (affected son with deletion)
Possibly segregated
GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,HERC2P10,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
maini_18_ASD/DD/ID_discovery_cases-case75
Paternal
Not simplex
Unknown
OTUD7A,CHRNA7
maini_18_ASD/DD/ID_discovery_cases-case_unknown40
Maternal
Unknown
Unknown
CHRNA7
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530558
Unknown
CHRNA7,ULK4P1,DNM1P31,GOLGA8O,GOLGA8K,DNM1P32,LINC02256,RN7SL185P,RNU6-18P,RN7SL539P
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530568
Unknown
CHRNA7,ULK4P1,DNM1P31,GOLGA8O,GOLGA8K,DNM1P32,LINC02256,RN7SL185P,RNU6-18P,RN7SL539P
meganathan_21_ASD/ADHD/DD_discovery_cases-caseAP
Maternal
Multiplex
CHRNA7,OTUD7A,DEPDC1P1
Increased CHRNA7 expression in NPCs derived from the affected proband and his unaffected mother comp
melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4
qPCR
Maternal
Multiplex
Not segregated (No segregation of CNV with TS)
OTUD7A, CHRNA7
mikhail_11_DD/ID_discovery_cases-patient7
FISH
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
moreira_14_ASD/EP_discovery_cases-case2
Array SNP
Paternal
Simplex
Unknown
OTUD7A,CHRNA7
moreira_14_ASD/EP_discovery_cases-case3
Array SNP
Paternal
Unknown
Unknown
OTUD7A,CHRNA7
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253202
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
nord_11_ASD_discovery_cases-316-1
Paternal
TRPM1
oikonomakis_16_ASD_discovery_cases-case449
Unknown
OTUD7A,CHRNA7
oikonomakis_16_ASD_discovery_cases-case543
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,ULK4P1,LINC02256,GOLGA8N,SCG5,GREM1,CHRNA7,ARHGAP11A,FMN1
pagnamenta_09_ASD_discovery_cases-probandcase1
aCGH (Agilent 44K)
Maternal
Multiplex
Segregated
GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
pagnamenta_09_ASD_proband_family_cases-case2
aCGH (Agilent 44K)
Maternal
Multiplex
Segregated
GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
pagnamenta_09_ASD_proband_family_cases-case3
aCGH (Agilent 44K)
Maternal
Multiplex
Segregated
GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,RN7SL286P,HERC2P10,MTMR10,KLF13,ULK4P1,LINC02256,GOLGA8N,FAN1,TRPM1,OTUD7A,CHRNA7,ARHGAP11A
pinto_10_ASD_discovery_cases-case5237_3
Agilent1M
paternal
Simplex
NA
OTUD7A,CHRNA7
pinto_10_ASD_discovery_cases-case5248_3
Agilent1M
paternal
NA
NA
OTUD7A,CHRNA7
pinto_10_ASD_discovery_cases-case5311_3
Agilent1M
paternal
NA
NA
CHRNA7
pinto_10_ASD_discovery_cases-case5320_3
Agilent1M
maternal
NA
NA
CHRNA7
pinto_14_ASD_discovery_cases2-case6325_3
qPCR
Maternal
Simplex
(no siblings)
OTUD7A,CHRNA7
pinto_14_ASD_discovery_cases2-case6396_3
qPCR
Paternal
Multiplex
(no siblings)
OTUD7A,CHRNA7
poultney_13_ASD_discovery_cases-case01HI2130A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR211,TRPM1
poultney_13_ASD_discovery_cases-case03HI2699A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR211,TRPM1
poultney_13_ASD_discovery_cases-case05HI3851A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CHRNA7
poultney_13_ASD_discovery_cases-case05HI3863A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CHRNA7
poultney_13_ASD_discovery_cases-case05HI4003A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CHRNA7
prasad_12_ASD_discovery_cases-case157660L
Unknown
Unknown
Unknown
MIR211,TRPM1
prasad_12_ASD_discovery_cases-case55360
Unknown
Unknown
Unknown
MIR211,TRPM1
quintela_17_DD/ID_discovery_cases-caseID_294
Unknown
Unknown
OTUD7A,CHRNA7
quintela_17_DD/ID_discovery_cases-caseID_33
Unknown
Unknown
OTUD7A,CHRNA7
quintela_17_DD/ID_discovery_cases-caseID_414
Unknown
Unknown
OTUD7A,CHRNA7
quintela_17_DD/ID_discovery_cases-caseID_459
Unknown
Unknown
OTUD7A,CHRNA7
quintela_17_DD/ID_discovery_cases-caseID_460
Unknown
Unknown
OTUD7A,CHRNA7
quintela_17_DD/ID_discovery_cases-caseID_469
Unknown
Unknown
OTUD7A,CHRNA7
roberts_13_ASD/DD/ID_discovery_cases-ASDcase9
BACs aCGH or FISH
Maternal
Unknown
Unknown
OTUD7A,CHRNA7
rosenfeld_10_ASD_discovery_cases-case21791
FISH
Paternal
Unknown
Unknown
TRPM1,LOC283710,KLF13,OTUD7A
rosenfeld_10_ASD_discovery_cases-case23597
FISH
Maternal
Unknown
Unknown
TRPM1,LOC283710,KLF13,OTUD7A
rosenfeld_10_ASD_discovery_cases-case26276
FISH
Paternal
Unknown
Unknown
TRPM1,LOC283710,KLF13,OTUD7A
rosenfeld_10_ASD_discovery_cases-case28679
FISH
Paternal
Unknown
Unknown
TRPM1,LOC283710,KLF13,OTUD7A
sajan_13_ACC/CBLH/PMG_discovery_cases-case1328-0
qPCR
Paternal
Unknown
Unknown
OTUD7A,CHRNA7
sajan_13_ACC/CBLH/PMG_discovery_cases-case1335-4
qPCR
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
sajan_13_ACC/CBLH/PMG_discovery_cases-case1559-0
qPCR
Paternal
Unknown
Unknown
OTUD7A,CHRNA7
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-172
qPCR
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-007
qPCR
Maternal
Unknown
Unknown
OTUD7A,CHRNA7
sanders_11_ASD_discovery_cases-12061.p1
Both parents
Simplex (quad-proband matched)
Segregated
OTUD7A
sandoval_talamantes_23_ASD_discovery_cases-caseAUT224
Unknown
CHRNA7,OTUD7A,DEPDC1P1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT225
Unknown
CHRNA7,OTUD7A,DEPDC1P1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT227
Unknown
CHRNA7,OTUD7A,DEPDC1P1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT228
Unknown
CHRNA7,OTUD7A
sandoval_talamantes_23_ASD_discovery_cases-caseAUT229
Unknown
CHRNA7,OTUD7A,DEPDC1P1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT230
Unknown
CHRNA7,OTUD7A,DEPDC1P1
sandoval_talamantes_23_ASD_discovery_cases-caseAUT231
Unknown
CHRNA7,OTUD7A,DEPDC1P1
sansovic_17_DD/ID/ASD_discovery_cases-case56
Unknown
OTUD7A,CHRNA7
sansovic_17_DD/ID/ASD_discovery_cases-case88
Paternal
OTUD7A,CHRNA7
shin_15_ASD/DD/ID_discovery_cases-case12
Array SNP (Affymetrix CytoScan 750K)
Unknown
Unknown
OTUD7A,CHRNA7
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseI-1
Unknown
Unknown
Multi-generational
Segregated
OTUD7A
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseII-3
Paternal
Paternal
Multi-generational
Segregated
OTUD7A
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-2
FISH, aCGH (NimbleGen 4.2M and Agilent 4x44K), qPCR
Maternal
Maternal
Multi-generational
Segregated
OTUD7A
soler-alfonso_14_ASD/BPD/DD/ID/EP_discovery_cases-caseIII-3
FISH, qPCR
Maternal
Maternal
Multi-generational
Segregated
OTUD7A
stamouli_18_ASD/NDD_discovery_cases-family29_Twin_1
qPCR, found also in cotwin
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
MIR211,TRPM1
streata_22_ASD/DD/ID_discovery_cases-case56
CMA, karyotyping, and/or MLPA
De novo
CHRNA7,OTUD7A,DEPDC1P1
streata_22_ASD/DD/ID_discovery_cases-case74
CMA, karyotyping, and/or MLPA
De novo
CHRNA7,OTUD7A
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1
van_den_bossche_12_BPD_discovery_cases-Bas1516
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_BPD_discovery_cases-Sc7371
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_ID_discovery_cases-Sc4266
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_ID_discovery_cases-Sc7430
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_ID_discovery_cases-Sc7625
Unknown
Unknown
Unknown
MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,TRPM1,OTUD7A,CHRNA7
van_den_bossche_12_MDD_discovery_cases-Sc6810
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_MDD_discovery_cases-Sc7027
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_SCZ_discovery_cases-Das18
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_SCZ_discovery_cases-Das183
Unknown
Unknown
Unknown
LINC02352,UBE2CP4,KLF13,TRPM1,OTUD7A
van_den_bossche_12_SCZ_discovery_cases-Sc11110
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_SCZ_discovery_cases-Sc11510
Unknown
Unknown
Unknown
MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,TRPM1,OTUD7A,CHRNA7
van_den_bossche_12_SCZ_discovery_cases-Sc3694
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_SCZ_discovery_cases-Zas8999
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_SCZ_discovery_cases-Zas9020
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
wisniowiecka-kowalnik_12_ASD_discovery_cases-patient4
FISH
Maternal
Multiplex
Not segregated
CHRNA7
xu_16_ASD/DD/ID_discovery_cases-case8
Maternal
NCAPGP2,GOLGA8J,RN7SL673P,DNM1P28,GOLGA8T,RN7SL469P,DNM1P30,RNU6-17P,RN7SL196P,RN7SL796P,DNM1P50,RN7SL628P,GOLGA8UP,RN7SL82P,RNU6-466P,MIR211,LINC02352,UBE2CP4,ULK4P3,LINC02249,CHRFAM7A,GOLGA8Q,ULK4P2,GOLGA8H,ARHGAP11B,HERC2P10,MTMR10,KLF13,TJP1,FAN1,TRPM1,OTUD7A,CHRNA7,GOLGA8R
yingjun_17_ASD_discovery_cases-case1248
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
yin_16_ASD_discovery_cases-case477
Unknown
Unknown
Unknown
HNRNPA1P71,TMCO5B,FMN1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case10-1129-005
RT-qPCR or WGS
Paternal
OTUD7A,CHRNA7
null
zhou_16_SCZ_discovery_cases-caseNSB3248
CNV validation not reported
Possibly paternal
Paternal
Multiplex
Possibly segregated
OTUD7A,CHRNA7
zhou_16_SCZ_discovery_cases-caseNSB852
CNV validation not reported
Paternal
Paternal
Multi-generational
Segregated
RNU6-18P,OTUD7A,CHRNA7
zhou_19_ASD_discovery_cases-caseAU032303
qPCR, solid phase hybridization
Maternal
CHRNA7
zhou_19_ASD_discovery_cases-caseAU044903
qPCR, solid phase hybridization
Maternal
CHRNA7
zhou_19_ASD_discovery_cases-caseAU096503
qPCR, solid phase hybridization
Unknown
CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case1
MLPA
Unknown (not maternal)
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case10
MLPA
Maternal
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case11
MLPA
Unknown
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case13
MLPA
Unknown
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case14
MLPA
Unknown
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case15
MLPA
Maternal
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case17
MLPA
Unknown
Multiplex
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case18
MLPA
Maternal
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case2
MLPA
Unknown (not maternal)
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case3
MLPA
De novo
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case5
MLPA
Maternal
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case6
MLPA
Unknown
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case7
MLPA
Unknown (not maternal)
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case8
MLPA
Unknown
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
ziats_16_DD/ID/ADHD/ASD_discovery_cases-case9
MLPA
Unknown (not paternal)
FAN1, MTMR10,TRPM1,KLF13,OTUD7A,CHRNA7
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10058
Unknown
OTUD7A,CHRNA7
bacchelli_20_ASD_discovery_controls-control10061
Unknown
OTUD7A,CHRNA7
bacchelli_20_ASD_discovery_controls-control10116
Unknown
OTUD7A,CHRNA7
bacchelli_20_ASD_discovery_controls-control10471
Unknown
CHRNA7
chen_17_ASD_discovery_controls1-control3
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
chen_17_ASD_discovery_controls1-control4
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
chen_17_ASD_discovery_controls1-control5
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
chen_17_ASD_discovery_controls1-control6
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
chen_17_ASD_discovery_controls1-control7
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
chen_17_ASD_discovery_controls1-control8
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,DNM1P32,GOLGA8O,RN7SL539P,ULK4P1,LINC02256,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control26
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control27
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control28
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control29
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control30
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control31
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control32
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control33
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control34
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control35
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control36
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control37
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control38
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control39
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control40
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control41
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control42
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control43
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control44
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control45
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control46
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control47
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control48
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control49
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control50
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control51
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control52
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control53
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control54
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control55
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control56
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control57
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control58
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control59
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control60
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control61
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control62
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control63
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control64
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control65
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control66
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control67
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control68
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control69
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control70
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control71
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control72
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control73
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control74
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control75
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control76
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_12_ASD/DD/ID_discovery_controls-control77
NA
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
girirajan_13b_ASD_discovery_controls-15607108080
Unknown
LINC02352,KLF13,TRPM1
girirajan_13b_ASD_discovery_controls-15607108080
Unknown
LINC02352,KLF13,TRPM1
girirajan_13b_ASD_discovery_controls-24809111471
Unknown
OTUD7A,CHRNA7
guo_17_ASD_discovery_controls-controlPY2562
qPCR
Unknown
RNU6-466P,MIR211,LINC02352,UBE2CP4,MTMR10,KLF13,FAN1,TRPM1,OTUD7A,CHRNA7
kanduri_15_ASD_discovery_controls-control_split1069
Unknown
Intergenic CNV: nearest genes, CHRNA7(dist=48126),GOLGA8K(dist=61659)
kanduri_15_ASD_discovery_controls-control_split1797
Unknown
CHRNA7
kanduri_15_ASD_discovery_controls-control_split341
Unknown
CHRNA7
krumm_13_ASD_discovery_controls-control12833.s1
Paternal
Simplex
CHRNA7
krumm_13_ASD_discovery_controls-control13487.s1
Paternal
Simplex
MIR211,TRPM1
krumm_15_ASD_discovery_controls-control11197.s1
Illumina 1M
Maternal
MIR211,TRPM1
krumm_15_ASD_discovery_controls-control11341.s1
Illumina 1M
Maternal
CHRNA7
krumm_15_ASD_discovery_controls-control13106.s1
1M-Duov3
Maternal
CHRNA7
krumm_15_ASD_discovery_controls-control13487.s1
1M-Duov3
Paternal
MIR211,TRPM1
krumm_15_ASD_discovery_controls-control14186.s1
Omni2.5-4v1
Maternal
MIR211,TRPM1
krumm_15_ASD_discovery_controls-control14232.s1
Omni2.5-4v1
Maternal
CHRNA7
krumm_15_ASD_discovery_controls-control14268.s1
Omni2.5-4v1
Maternal
CHRNA7
krumm_15_ASD_discovery_controls-control14280.s1
Omni2.5-4v1
Maternal
MIR211,TRPM1
krumm_15_ASD_discovery_controls-control14491.s1
Omni2.5-4v1
Paternal
CHRNA7
kushima_18_ASD/SCZ_discovery_controls-controlCON1167
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
RNU6-18P,DNM1P31,GOLGA8K,RN7SL185P,ULK4P1,CHRNA7
poultney_13_ASD_discovery_controls-control04C28197A
Unknown
CHRNA7
poultney_13_ASD_discovery_controls-control04C37985A
Unknown
CHRNA7
sanders_11_ASD_discovery_controls-11197.s1
Maternal
Simplex (quad)
NA
MIR211,TRPM1
van_den_bossche_12_BPD_discovery_controls-Sc11009
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_ID_discovery_controls-Sc11009
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_MDD_discovery_controls-Sc11009
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
van_den_bossche_12_SCZ_discovery_controls-Sc11009
Unknown
Unknown
Unknown
OTUD7A,CHRNA7
h15q13.3->m7qC
# of Model: 3
# of References: 2
# of References: 2
Mouse Chromosome Information
This mouse model features a deletion in the qC locus of mouse chromosome 7, spanning from an upstream breakpoint between exons 9 and 10 of the Chrna7 gene and a downstream breakpoint between exons 3 and 4 of the Fan1 gene. It is syntenic to an approximately 1.5-Mb deletion in the human 15q13.3 locus.
Model Summary
Copy number variants in the 15q13.3 locus are associated not only with autism, but other neurodevelopmental and neuropsychiatric disorders. In particular, deletions in this region are strongly associated with schizophrenia and epilepsy. Mice with the corresponding syntenic deletion recapitulate many of the phenotypes associated with 15q13.3 microdeletion in humans, including marked changes in neuronal excitability, impaired long-term spatial reference memory, and increased aggression following exposure to mild stressors.
External Links
References
Report Type
Title
Author, Year
epilepsy
A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.
epilepsy
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
M_DF(7QC)_1_HT
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: Chromosomal engineering mediated removal of 1.28Mb region on mouse chromosome 7qC region between the Chrna7 and Mtmr15 genes
Synteny: Human 15q13.3 is syntenic to Mouse 7qC
M_DF(7QC)_2_HT
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition: 15q13.3 heterozygous microdeletion mouse model (Df[h15q13]/+) BP4-BP5 was generated by hemizygous deletion of 1.28 megabases on mouse chromosome 7, orthologous to the human 15q13.3 region, using loxp sites inserted upstream of the Chrna7 gene and downstream of the Mtmr15 gene using Cre mediated recombination. WT females were timed-bred with Df(h15q13)/+ males and the progeny analyzed.
Synteny: Human 15q13.3 is syntenic to Mouse 7qC
M_DF(7QC)_2_HT_OTUD7A
Model Type: Genetic
Model Genotype: Heterozygous
Construct Definition:
Synteny: to label layer 2/3 prefrontal cortical neurons. Litters were born and sacrificed by perfusion at P22.
M_DF(7QC)_1_HT
| Category | Entity | Quantity | Experimental Paradigm | Age at Testing |
| Neurophysiology | Electroencephalogram (eeg) signature 1 |
Decreased
Description:
Df(7qC) hemizygotes have reduced loudness dependent auditory evoked potential in the parietal cortex and the frontal cortex, compared to wild type controls
|
Electroencephalogram (eeg) | 15 weeks |
| Neurophysiology | Electroencephalogram (eeg) signature 1 |
Increased
Description:
Df(7qC) hemizygotes have increased auditory induced gamma power in the parietal and frontal cortex
Exp Paradigm: Active state EEG |
Electroencephalogram (eeg) | 15 weeks |
| Seizure | Seizures 1 |
Decreased
Description:
Df(7qC) mice were strongly protected from the electrically induced tonic seizures as well as nicotine induced clonic seizures
Exp Paradigm: Electrically and chemically induced seizures. Pentylenetetrazole and nicotine treatment was used for tonic-clonic and cloni induction |
Maximal electroconvulsive seizure threshold test | 15 weeks |
| Sensory | Startle response: acoustic stimulus 1 |
Decreased
Description:
Baseline acoustic startle response was decreased in Df(7qC) hemizygotes
|
||
| Social behavior | Aggression 1 |
Increased
Description:
Df(7qC) hemizygotes show increased aggression after stress
Exp Paradigm: Home cage observations were observed following stress inducing behavioral tests |
Home cage behavior | 9-12 weeks |
| Developmental profile | Size/growth 1 |
Increased
Description:
Increased body weight is seen in the Df(7qC) hemizygotes compared to wild type littermates. This differences arises at 6-7 weeks
|
Body weight measurement | 4-9 weeks |
| Learning & memory | Spatial reference memory 1 |
Decreased
Description:
The time spent in the correct quadrant was significantly reduced in the Df7qC hemizygotes
Exp Paradigm: Memory was tested in the probe trial, following training in the hidden platform test, 24 hrs after the last training day (day4) |
Morris water maze test | 9-12 weeks |
| Developmental profile | General characteristics 1 | No change | General observations | |
| Motor phenotype | Hyperactivity 1 | No change | Open field test | 9-12 weeks |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Brain morphology 1 | No change | Histology | 9-12 weeks |
| Sensory | Sensorimotor gating 1 | No change | Prepulse inhibition | |
| Not Reported: | Circadian sleep/wake cycle, Communications, Emotion, Immune response, Maternal behavior, Molecular profile, Physiological parameters, Repetitive behavior, | |||
| References: | 1: Fejgin K , et al. 2013 | |||
M_DF(7QC)_2_HT
| Category | Entity | Quantity | Experimental Paradigm | Age at Testing |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine morphology 1 |
Decreased
Description:
Mutants show reduction in mature mushroom-shaped spines compared to controls. Mutants show reduction in spine length and spine neck length compared to controls.
Exp Paradigm: Cortical neurons in layers 2/3 of the prefrontal cortex (PFC) were analyzed. |
Golgi-cox staining | 4 weeks |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density 1 |
Decreased
Description:
Mutants show reduction in spine density compared to controls.
Exp Paradigm: Cortical neurons in layers 2/3 of the prefrontal cortex (PFC) were analyzed. |
Golgi-cox staining | 4 weeks |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity 1 |
Decreased
Description:
Mutant mice showed decreased arborization, measured by the numbe rof intersections, in layer 2/3 PFC neurons compared to WT mice.
Exp Paradigm: Cortical neurons in layers 2/3 of the prefrontal cortex (PFC) were analyzed. |
Golgi-cox staining | 4 weeks |
| Molecular profile | Gene expression 1 |
Abnormal
Description:
Mutants show differential gene expression in forebrain signaling pathways compared to controls. Enriched genes included genes involved in prenatal organ development, specifically forebrain development, suggesting cortical development is disrupted in mutants.
Exp Paradigm: mRNA was extracted from E16, P21, and adult (P63) mouse cortical brain tissue. |
Rna sequencing | E16, 3 weeks, 2 months |
| Molecular profile | Gene expression 1 |
Decreased
Description:
Mutants show decreased transcript levels of Mtmr10, Otud7a, Klf13, Fan1, and Chrna7 compared to controls. Differential gene expression was most pronounced at postnatal time points, 3 weeks and adulthood, when spine and synapse development is peaking.
Exp Paradigm: mRNA was extracted from E16, P21, and adult (P63) mouse cortical brain tissue. |
Rna sequencing | E16, 3 weeks, 2 months |
| Not Reported: | Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, | |||
| References: | 1: Uddin M , et al. 2018 | |||
M_DF(7QC)_2_HT_OTUD7A
| Category | Entity | Quantity | Experimental Paradigm | Age at Testing |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine density 1 |
Restored
Description:
Expression of OTUD7A WT in mutant layer 2/3 PFC neurons completely rescued the deficit in spine density compared to mutants.
Exp Paradigm: Cortical neurons in layers 2/3 of the prefrontal cortex (PFC) were analyzed. |
Golgi-cox staining | 3 weeks |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: dendritic tree complexity 1 |
Restored
Description:
Expression of OTUD7A WT in mutant layer 2/3 PFC neurons rescued the deficit of dendritic branching in mutants.
Exp Paradigm: Cortical neurons in layers 2/3 of the prefrontal cortex (PFC) were analyzed. |
Golgi-cox staining | 3 weeks |
| Neuroanatomy / Ultrastructure / Cytoarchitecture | Dendritic architecture: spine morphology 1 |
Restored
Description:
Expression of OTUD7A WT in mutant layer 2/3 PFC neurons completely rescued the proportion of mature mushroom-shaped spines and spine length compared to mutants.
Exp Paradigm: Cortical neurons in layers 2/3 of the prefrontal cortex (PFC) were analyzed. |
Golgi-cox staining | 3 weeks |
| Not Reported: | Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior, | |||
| References: | 1: Uddin M , et al. 2018 | |||