2p16.3CNV Type: Deletion-Duplication
Largest CNV size: 533842 bp
Statistics Box:
Number of Reports: 81
Number of Reports: 81
Summary Information
Deletions at the 2p16.3 locus have been observed far more frequently than duplications in autistic cohorts. CNVs at this locus are typically located within or adjacent to the NRXN1 gene.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Deletion
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
Deletion
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Deletion
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Deletion-Duplication
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
Deletion
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Identification of rare copy number variants in high burden schizophrenia families.
Deletion
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.
Deletion
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.
Deletion
A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1.
Deletion
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Deletion
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Deletion
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder
Deletion
Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings
Deletion
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
A genotype resource for postmortem brain samples from the Autism Tissue Program.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion-Duplication
Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders.
Deletion
Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Deletion-Duplication
2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragma...
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
High rate of disease-related copy number variations in childhood onset schizophrenia.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Deletion
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
agha_14_ID/EP_discovery_cases
Affected family members (a mother and two male offspring) from a consanguineous Pakistani family (MRQ12)
3
All three affected family members presented with intellectual disability (ID), epilepsy (EP), and diabetes mellitus; two also presented with microcephaly, white matter disease of the brain, hyponychia, and dysmorphic facial features.
Range, 39-72 yrs.
66.67% Male
610000
3
0
3
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
112000
1
0
1
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
77325
1
0
1
alfieri_20_ASD/DD/ID_discovery_cases
Individuals with heterozygous NRXN1 deletions referred to the Bambino Ges Childrens Hospital for genetic, neuropsychological and neuropsychiatric assessment
5
All five individuals presented with developmental delay; three cases were also diagnosed with autism spectrum disorder (ADOS-2)
Range, 4 yrs. 1 mo.-15 yrs. 3 mos.
60.0% Male
1302552
5
0
5
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
34
0
34
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
696329
3
1
4
ben-david_11_ASD_discovery_cases
Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.
17
Diagnosis of DSM IV autistic disorder (n=14) or PDD-NOS (n=3) using ADI-R and ADOS-G; average IQ 51.2 28.3
70.59% Male
1822000
1
0
1
bena_13_ASD/DD/ID_discovery_cases
Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study
25
Diagnosis of ASD in 65% of cases (diagnostic tools N/A). Other recurrent diagnoses: intellectual disability (91%), language delay (81%), seizures (43%), and hypotonia (38%).
Range, 5-59 yrs.
76.0% Male
1150000
26
0
26
benitez-burraco_23_DD/ID_discovery_cases
Patient with a paternally-inherited 2p16.3 deletion affecting exons 3-7 of the NRXN1 gene.
1
Case presented with severe developmental delay (DD), moderate intellectual disability (ID), autistic traits (incluiding ritualized behaviors and impaired social interactions), and symptoms of ADHD.
8 yrs. 1 mo.
Female
185953
1
0
1
bermudez-wagner_13_DD_discovery_cases
9-year-old female patient with developmental delay and other features, born to father diagnosed with ADHD and early cognitive difficulties
1
Developmental delay (DD), short stature, and multiple congenital anomalies (MCA)
9 yrs.
Female
190000
1
0
1
brandler_16_ASD_discovery_cases
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
71
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
N/A
N/A
166000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
504787
3
0
3
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
489848
6
0
6
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
374000
2
0
2
bucan_09_ASD_discovery_cases
Individuals from 912 multiplex families (AGRE cohort)
3832
ASD
439406
5
0
5
bucan_09_ASD_replication_cases
Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex
859
828 diagnosed with autism, 31 with other ASDs
Range, 2-21
81.8% Male
533842
4
0
4
cameli_21_ASD_discovery_cases
ASD probands from 89 Italian families recruited at the UOSI Disturbi dello Spettro Autistico, IRCCS Istituto delle Scienze Neurologiche (Bologna, Italy).
104
Cases were diagnosed with ASD (ADOS, CARS, and M-CHAT); developmental/cognitive levels were assessed with PEP-3, Leiter-R, Griffith Scales, or Wechsler Scales, while adaptive behavior was assessed with VABS.
N/A
75.0% Male
811408
1
0
1
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
489847
2
0
2
ching_10_ASD/DD/MR_discovery_cases
Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009
3540
Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations
315000
10
0
10
coe_14_ASD/DD/ID_discovery_cases
Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
29085
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
1110000
30
0
30
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
60106
3
0
3
dabell_13_ASD/DD/ID_discovery_cases
Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1
30065
Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies
N/A
N/A
686142
40
0
40
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
205000
2
0
2
duong_12_ASD_discovery_cases
Autistic proband from a family multiply affected with psychiatric, neurological, and somatic disorders.
1
Autism, mental retardation, and epilepsy. DSM-IV diagnoses deduced using medical records and The Schedules of Clinical Assessment in Neuropsychiatry (version 2.1, program version 1.0.3.5) in interview.
33 yrs.
Male
451000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
499967
27
5
32
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
375000
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
36484
2
0
2
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
14706
1
0
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
373015
9
2
11
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
241327
4
0
4
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
459281
7
0
7
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
326956
4
0
4
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
326956
6
0
6
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
177359
2
0
2
gregor_21_DD/ID/EP_discovery_cases
Individuals carrying de novo 2p16.3 deletions affecting the FBXO11 gene from an initial cohort of 23 patients with FBXO11 variants.
4
All four cases presented with developmental delay (DD); three cases also presented with intellectual disability (ID), while one case also presented with seizures (EP).
Range, 3 yrs. 10 mos.-17 yrs.
75% Male
96310
4
0
4
guilmatre_09_ASD_discovery_cases
ASD cases from 4 units in Rouen, Tours, and Dijon (France) and in Messina (Italy). 9.6% of cases were familial (multiplex families), 8.5% of cases were syndromic.
260
257 cases with autism, 3 cases with Aspberger syndrome
11.8
80.5% Male
<427000
2
0
2
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
107660
2
0
2
holmquist_14_ID_discovery_cases
Fifth child of consanguineous Middle-Eastern parents who are first cousins; both parents, three older sisters, and a brother are all healthy and without symptoms
1
Severe intellectual disability, absent speech, impaired social interactions, stereotypies, failure-to-thrive, and dysmorphic features.
4 yrs.
Male
170000
2
0
2
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
6167
3
0
3
imitola_14_ASD/ID/EP_discovery_cases
Fraternal twins that were born to healthy, non-consanguineous parents presenting with biallelic deletions involving NRXN1
2
Diagnosis of Pitt-Hopkins-like syndrome 2; both cases presenting with autism and severe cognitive deficits, one case also presenting with atypical absence epilepsy
7 yrs.
1 male, 1 female (50% Male)
282000
4
0
4
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
62136
1
0
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
365000
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
572608
13
0
13
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
408252
3
0
3
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
821048
2
0
2
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
247100
3
0
3
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
821049
2
0
2
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
563750
0
1
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
247101
4
0
4
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
129800
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
43807
2
0
2
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
29973
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
78999
1
0
1
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
937293
1
1
2
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
236300
1
0
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
250000
2
0
2
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
47962
1
0
1
ohashi_21_ASD_discovery_cases
Patients diagnosed with ASD recruited from August 2015 to December 2017 in Nagoya City University Hospital (Nagoya, Japan)
48
Cases diagnosed with ASD according to DSM-5 criteria and evaluated using CARS-Tokyo version
Median age at time of genetic analysis, 9.8 years (IQR 6.0-12.9)
60.41% Male
414421
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
249800
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
231738
7
1
8
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
369653
3
0
3
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
486832
11
3
14
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
96000
1
0
1
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
292518
1
0
1
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
513662
40
1
41
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
61000
2
0
2
schaaf_12_ASD/DD/ID_discovery_cases
22 patients (out of 8051) referred to BCM MCL for aCGH analysis from August 2009-September 2010 with identified intragenic NRXN1 deletions, plus two additional patients recruited who had CMA testing at different laboratories (University of Iowa and Quest Diagnostics)
24
ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)
Range, 16 days-30 years (age at diagnosis)
66.7% Male
913000
24
0
24
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
139000
3
0
3
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
137000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
soysal_11_ASD_discovery_cases
12 yr. autistic female with scoliosis referred for mild mental retardation (Dept. of Medical Genetics, Afyon Kocatepe Univ., Turkey)
1
ASD
12 yrs.
Female
191000
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
355300
2
0
2
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
488801
1
0
1
tuncay_23_ASD_discovery_cases
ASD probands from East African families with at least one child affected with ASD (30 simplex families, 3 multiplex families).
36
Cases diagnosed with ASD using ADOS, ADI-R, and DSM-V.
Mean age, 14.8 yrs./median age, 12.7 yrs.
77.78% Male
17331
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
500000
2
1
3
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
130000
2
0
2
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
0
0
0
0
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
0
0
0
0
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
0
0
0
0
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
573000
2
1
3
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Three unrelated patients with 2p16.3/NRXN1 deletions seen at the Service for Mental Health and Intellectual Disability at the Parc Hospitalari Marti I Julia (Girona, Catalunya, Spain) and referred to the Clinical Genetics Department at the Corporacio Sanitaria Parc Tauli (Sabasell, Catalunya, Spain).
3
All three cases present with intellectual disability; additional diagnoses of bipolar disorder (case 1), ASD (case 2) and ADHD (case 3). Psychopathological evaluation tests: PASS-ADD, Compulsive behavior checklist, and Y-BOCS (cases 1 and 2). Cognitive evaluation tests: K-BIT, FCRO, Color Trail Test 1 and 2, PIEN-ID, BRIEF, ADOS, and Tower of London (cases 1 and 2); WISC-IV, Bayley II, and Reynell (case 3). Behavioral evaluation tests: ABC scale, ABS-RC:2 (cases 1 and 2).
Range, 11-21 yrs.
66.67% Male
627000
3
0
3
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
118803
5
1
6
wenger_16_22q11DS_discovery_cases
Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing
75
All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD
N/A
N/A
20800
1
0
1
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
250911
1
0
1
wintle_10_ASD_discovery_cases
Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)
34
26 subjects with confirmed or suspected autism, 4 subjects with confirmed autism and 15q duplication, 2 subjects with epilepsy, 1 subject with 15q duplication, & 1 subject with Angelman syndrome
Mean, 25.97 18.93
73.53% Male
12500
1
0
1
wisniowiecka-kowalnik_10_ASD_discovery_cases
Autistic probands from three families with intragenic rearrangements within the NRXN1 gene
3
Diagnosis of ASD made using ADOS and/or ADI-R.
Range, 4-36 yrs.
33.3% Male
378998
1
2
3
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
549345
1
0
1
ye_12_ASD/BPD/MDD/SCZ_discovery_cases
Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH
486
Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193
Mean age of ASD cases, 29.8 yrs; mean age of all other cases, ~ 47 yrs.
54.9% Male
69000
1
0
1
yuen_16_ASD_discovery_cases
Cases from unrelated trio families from a cohort of Canadian ASD families
200
Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation
N/A
N/A
39498
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
246499
5
0
5
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
657993
10
0
10
zhang_23_ASD/DD/ID_discovery_cases
Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.
354
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.
Range, 1-12 yrs.
78.81% Male
650589
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ahn_13_SCZ_discovery_controls
Full siblings of probands without diagnosis of neurodevelopmental disorder (19 full siblings from original cohort of 117 full siblings were excluded due to diagnoses of schizophrenia, autism, intellectual disability, or bipolar disorder)
98
Control
N/A
N/A
N/A
N/A
N/A
N/A
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
51962
1
0
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
504787
1
0
1
bucan_09_ASD_discovery_controls
1070 healthy children (CHOP), 418 neurologically normal adults and seniors (NINDS control collection)
1488
Controls
439406
0
0
0
bucan_09_ASD_replication_controls
Children of Caucasian ancestry with no history of ASDs (CHOP)
1051
Controls
439406
0
0
0
coe_14_ASD/DD/ID_discovery_controls
Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
19584
Control
N/A
N/A
1110000
9
0
9
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
896013
22
2
24
gai_11_ASD_discovery_controls
Samples recruited from visits conducted within CHOP healthcare network
1775
Controls: patients screened for having no chronic illness/health issues as well as autism
Range, 3-18 yrs.
N/A
2
gai_11_ASD_replication_controls
Healthy individuals comprising the CHOP CNV resource
2026
Controls
N/A
6
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
1
0
1
guilmatre_09_ASD_discovery_controls
Controls
236
Controls
39.5
43.8% Male
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
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
17152
7
0
7
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
104945
1
0
1
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
88388
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
173939
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
14405
1
0
1
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)
486832
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.
512874
30
2
32
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
0
0
0
0
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
0
0
0
0
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
0
0
0
0
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
0
0
0
0
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
118803
0
0
0
wintle_10_ASD_discovery_controls_2
Control samples from POPGEN (n=1123) & Ottawa Heart Institute (n=1234); used for identification of rare CNVs in Affymetrix data
2357
Controls
51.3% Male
12500
0
0
0
yuen_16_ASD_discovery_controls
CNVs from Database of Genomic Variants (DGV); used to reduce the false detection of de novo CNVs
N/A
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
agha_14_ID/EP_discovery_cases
Pakistani
Array SNP
Affymetrix 250K
qPCR
ahn_13_SCZ_discovery_cases
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
None
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
alfieri_20_ASD/DD/ID_discovery_cases
aCGH, solid phase hybridization
Agilent Human CGH Microarray 60K, Illumina Infinium CytoSNP-850K BeadChip
ADM-2
Agilent Feature Extraction v.10.7.3.1, Bluefuse Multi v.4.4
None
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
ben-david_11_ASD_discovery_cases
Array SNP
Affymetrix 6.0
Canary, PennCNV
Affymetrix Genotyping Console
bena_13_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Agilent 244K, Agilent 105K, Agilent 180K, OGT custom design 180K, Affymetrix 250K NspI, Affymetrix 250K, Affymetrix Cyto-2.7 M, Illumina 12-330K
FISH, MLPA, qPCR, aCGH, array SNP
benitez-burraco_23_DD/ID_discovery_cases
Spain
aCGH
Agilent
ADM-2
Agilent Genomic Workbench v.7.0
None
bermudez-wagner_13_DD_discovery_cases
Caucasian
aCGH
105K whole-genome microarray (Signature Select v1.1; Signature Genomics/Agilent)
Genoglyphix
None
brandler_16_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
Lumpy
SVtyper
PCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
bucan_09_ASD_discovery_cases
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
bucan_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
qPCR
cameli_21_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2 8x60K, Agilent SurePrint G3 Human CGH 8x60K
ADM1
Agilent CytoGenomics v.5.0.1.6
qPCR
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
RT-PCR, qPCR, or ddPCR
ching_10_ASD/DD/MR_discovery_cases
aCGH
Agilent 244K
ADM-2
Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
PCR
coe_14_ASD/DD/ID_discovery_cases
N/A
aCGH
N/A
None
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
dabell_13_ASD/DD/ID_discovery_cases
N/A
aCGH
Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
FISH
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
duong_12_ASD_discovery_cases
Denmark
Array SNP
Affymetrix 6.0
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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)
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
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
gregor_21_DD/ID/EP_discovery_cases
NA
Array SNP, WES
Affymetrix CytoScan HD
NA
NA
MLPA
guilmatre_09_ASD_discovery_cases
France (231), Italy (29)
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
QMPSF, aCGH, FISH
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
holmquist_14_ID_discovery_cases
Middle Eastern
aCGH
N/A
MLPA
husson_20_ASD_discovery_cases
France
aCGH, WES
Agilent 180K, Illumina HiSeq4000
CANOES
WES, ddPCR, QMPSF, aCGH
imitola_14_ASD/ID/EP_discovery_cases
White
aCGH
N/A
FISH
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
SnipPeep and XHMM plot visualizations
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
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
ohashi_21_ASD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 4x160K
Agilent CytoGenomics
WES
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
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
schaaf_12_ASD/DD/ID_discovery_cases
Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)
aCGH
BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
FISH, PCR, DNA sequencing
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soysal_11_ASD_discovery_cases
Turkish
aCGH
OGT CytoSure 180K
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
tuncay_23_ASD_discovery_cases
East Africa (Ethiopia, Eritrea, Kenya)
WGS
Illumina NovaSeq 6000
NA
CNVkit, GISTIC2.0.
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
utine_14_DD/ID/ASD_discovery_cases
Turkey
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.0
RT-PCR
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
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases
Spain
aCGH
Agilent 400K
Agilent Workbench 5.0, Cytogenetics software, BioDiscovery Nexus 6.1
MLPA
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Long-range PCR, qPCR
wenger_16_22q11DS_discovery_cases
N/A
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
PennCNV
None
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
None
wintle_10_ASD_discovery_cases
31 European, 2 East Asian, 1 African
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Human 1M-duo
PennCNV, Birdsuite, iPattern
QuantiSNP, Affymetrix Genotyping Console
Solid phase hybridization
wisniowiecka-kowalnik_10_ASD_discovery_cases
NA
aCGH
BCM MGL/Agilent oligo aCGH (CMA V6.3 OLIGO, V6.4 OLIGO, V6.5 OLIGO)
aCGH, FISH, long-range PCR
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
ye_12_ASD/BPD/MDD/SCZ_discovery_cases
NA
Solid phase hybridization
Illumina 1M Duo SNP chip
PennCNV, QuantiSNP
Illumina GenomeStudio V2010.1
None
yuen_16_ASD_discovery_cases
Canada
N/A
High-resolution microarray platform
Segseq, ERDS
qPCR, Sanger sequencing
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
zhang_23_ASD/DD/ID_discovery_cases
China
WGS
Illumina Novaseq
NA
CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ahn_13_SCZ_discovery_controls
N/A
Solid phase hybridization
Illumina Human or HumanOmni Beadchips
PennCNV, QuantiSNP, GNOSIS
Illumina GenomeStudio, CNVision, Nexus copy number
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
bucan_09_ASD_discovery_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
bucan_09_ASD_replication_controls
European
Solid phase hybridization
HumanHap550 V3
Penn CNV
coe_14_ASD/DD/ID_discovery_controls
N/A
aCGH, solid phase hybridization
Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_controls
1005 European descent, 723 African descent, 47 Asian descent
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_controls
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
guilmatre_09_ASD_discovery_controls
Northwestern France
QMPSF
ABI Prism 3100 sequencer (Applied Biosystems)
GeneScan 3.7
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_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
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wintle_10_ASD_discovery_controls_2
99% European
N/A
N/A
N/A
N/A
yuen_16_ASD_discovery_controls
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
agha_14_ID/EP_discovery_cases-caseIII:2
72 yrs.
F
Intellectual disability and epilepsy
Epilepsy/seizures: yes. Other features: suffered from insulin-dependent diabetes mellitus since age of 22 years. Family history: two affected male offspring with NRXN1 deletion (caseIV:5 and caseIV:6); four intellectually normal children with no congenital abnormality (one unaffected child did not inherit NRXN1 deletion; the others not tested)
Mild intellectual disability/learning disabilities
49982862
50592862
610001
GRCh38
Deletion
Yes
agha_14_ID/EP_discovery_cases-caseIV:5
40 yrs.
M
Intellectual disability
Birth/neonatal history: born after 40 weeks of gestation after uneventful pregnancy; microcephaly noted at birth. Developmental milestones: started walking at age of 11 months, speaking at age of 4 years. Langauge and communication evaluation: normal speech; poor comprehension; unable to count or write; highly pitched shrill voice. Motor and musculoskeletal evaluation: normal gait. Brain imaging: accentuated white matter of cerebrum and cerebellum on brain MRI. Dysmorphic features: synophrys, prominent irregular shaped long nose, short philtrum, deep set eyes, bilateral convergent strabismus, posteriorly rotated ears, complete hyponychia of fingers and toes. Other features: hyperhidrosis. Growth parameters: symmetrical microcephaly, relatively short stature and obesity; height of 162 cm, weight of 76 kg, BMI of 27.8, head circumference of 46 cm (<-2 SD). Family history: similarly affected younger brother (caseIV:6) and mother (caseIII:2). Additional genetic information: carries homozygous missense mutation in RBBP8 gene.
Intellectual disability
49982862
50592862
610001
GRCh38
Deletion
Yes
agha_14_ID/EP_discovery_cases-caseIV:6
39 yrs.
M
Intellectual disability and epilepsy
Language and communication evaluation: able to speak only a few words; high-pitched and shrill voice. Behavioral/psychiatric evaluation: very aggressive behavior. Epilepsy/seizures: yes (epileptic seizures not diagnosed). EEG: not recorded. Dysmorphic features: synophrys, deeply set eyes, large prominent irregularly shaped nose, posteriorly rotated ears, hyponychia of fingers and toes. Other features: hyperhidrosis since an early age. Growth parameters: microcephaly, obesity and short stature; height of 156 cm, weight of 69 kg, BMI of 25.2, head circumference of 47 cm (< -2 SD). Family history: similarly affected older brother (caseIV:5) and mother (caseIII:2). Additional genetic information: carries homozygous missense mutation in RBBP8 gene.
Intellectual disability
49982862
50592862
610001
GRCh38
Deletion
Yes
ahn_13_SCZ_discovery_cases-NSB_ID581
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
49944520
50056347
111828
GRCh38
Deletion
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case51
1.25 yrs.
M
Developmental delay
Global developmental delay. Growth parameters: height 0.74 m, weight 9 kg, head circumference 44 cm. Family history: no data on familial consanguinity.
50664806
50742130
77325
GRCh38
Deletion
No
alfieri_20_ASD/DD/ID_discovery_cases-case1
4 yrs. 6 mos.
F
ASD and developmental delay
Birth/neonatal history: delivery by caesarean section (due to toxemia of pregnancy). Developmental milestones: developmental delay (TDQ 30), delayed ability to walk (21 months), speech delay (only achieved vocalization). Motor and musculoskeletal evaluation: absence of sphincter control, hypotonia, balancing and motor skill problems. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder (ADOS-2), tantrums, self-injurious behavior, trichotillomania, bruxism. Additional medical history: post-infectious cerebellitis, dysmorphic features.
50205526
50308999
103474
GRCh38
Deletion
No
alfieri_20_ASD/DD/ID_discovery_cases-case2
4 yrs. 1 mo.
F
ASD and developmental delay
Birth/neonatal history: premature birth (34/35 weeks gestation) following a pregnancy complicated by exposure to smoking and medication. Developmental milestones: developmental delay (TDQ 44), delayed ability to walk (24 months), speech delay (babbling at 7 months, arrested). Motor and musculoskeletal evaluation: absence of sphincter control, hypotonia, slight chewing difficulties. Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder (ADOS-2). Additional medical history: dysmorphic features.
50859709
51183988
324280
GRCh38
Deletion
No
alfieri_20_ASD/DD/ID_discovery_cases-case3
8 yrs. 5 mos.
M
Developmental delay and intellectual disability
Birth/neonatal history: delivery by caesarean section following a pregnancy complicated by maternal depression at the 6th gestational month. Developmental milestones: delayed ability to walk (16 months), speech delay (first words at 24 months), delayed sphincter control (42 months). dysmorphic features, epilepsy (onset at 33 months), multiple ear infections, motor dysregulation, and attention problems (patient 3 in this report).
Borderline intellectual disability (NVIQ 74)
50587538
50659308
71771
GRCh38
Deletion
No
alfieri_20_ASD/DD/ID_discovery_cases-case4
15 yrs. 3 mos.
M
ASD and intellectual disability
Birth/neonatal history: delivery complicated by obstructed labor. Developmental milestones: delayed sphincter control (54 months). Behavioral/psychiatric evaluation: diagnosis of autism spectrum disorder (ADOS-2), paranoid ideation, aggressive behavior. Additional medical history: non-specific gliotic tissue alteration, ectasis of several medullary veins, dysmorphic features, food allergies (nuts, peaches, and tomatoes), selective deficit of immunoglobulin A, recurrent respiratory infections.
Intellectual disability (FSIQ 50)
50809966
52112517
1302552
GRCh38
Deletion
No
alfieri_20_ASD/DD/ID_discovery_cases-case5
11 yrs. 4 mos.
M
Developmental delay and intellectual disability
Birth/neonatal history: intrauterine growth retardation, delivery by caesarean section due to breech presentation. Developmental milestones: delayed ability to walk (16 months). Behavioral/psychiatric evaluation: sleep disturbance, behavioral abnormalities (talking to himself, shyness, withdrawing and avoidant behaviors). Additional medical history: dysmorphic facial features. Growth parameters: relative microcephaly (HC 3rd-10th %ile), short stature (height < 3rd %ile), decreased body weight (< 3rd %ile).
Borderline intellectual disability (NVIQ 72)
50665709
50810025
144317
GRCh38
Deletion
No
al_shehhi_18_ASD/DD/ID_discovery_cases-case1
10 yrs.
M
ASD, DD, and ADHD
ASD, speech and language delay, ADHD, hallucinations
Learning disability
49910893
49987638
76746
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case10
2 yrs. 9 mos.
F
Developmental delay and epilepsy/seizures
Speech and language delay, seizures, sensorineural hearing loss
Learning disability
50654857
50772687
117831
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case11
11 yrs. 3 mos.
F
Developmental delay and epilepsy/seizures
Speech and language delay, seizures, hypotonia
Learning disability
50710306
50939587
229282
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case12
7 yrs. 8 mos.
M
ASD and developmental delay
ASD, speech and language delay
Learning disability
50720532
50737769
17238
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case13
1 yr. 6 mos.
F
Developmental delay
Speech and language delay, Tetralogy of Fallot
Not reported
50730317
50794373
64057
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case14
11 yrs. 8 mos.
M
ASD and developmental delay
ASD, speech and language delay
Learning disability
50730317
51024419
294103
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case15
4 yrs.
M
Multiple congenital anomalies
Intrauterine growth retardation, right aortic arch, dysplastic ear
Not available
50737710
50985200
247491
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case16
9 yrs. 7 mos.
M
ASD and developmental delay
ASD, speech and language delay, hypotonia, pyloric stenosis
Learning disability
50737710
51024419
286710
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case17
5 yrs.
M
Developmental delay
Speech and language delay
Learning disability
50741315
50816419
75105
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case18
7 yrs.
F
ASD and developmental delay
ASD, speech and language delay, sensorineural hearing loss
Learning disability
50741315
51033474
292160
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case19
18 yrs.
F
ASD, DD, and psychosis
ASD, speech and language delay, psychosis
Learning disability
50754975
51219735
464761
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case2
8 yrs. 4 mos.
F
ASD and developmental delay
ASD, speech and language delay
Learning disability
50236383
50278527
42145
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case20
1 mo.
F
Epilepsy/seizures
Seizures, ventriculomegaly, contractures, low-set ears
No learning disability
50786488
50839499
53012
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case21
13 yrs.
M
ASD and developmental delay
ASD, speech and language delay
Learning disability
50830686
50915770
85085
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case22
1 yr. 8 mos.
M
Microcephaly
Microcephaly
Not reported
50839440
50873333
33894
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case23
6 yrs.
F
ASD and developmental delay
ASD, speech and language delay, short stature
Learning disability
50856272
50945044
88773
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case24
1 yr.
M
Multiple congenital anomalies
Aortic stenosis, cleft lip and palate
Not reported
50856272
50974331
118060
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case25
8 yrs. 10 mos.
M
Developmental delay
Speech and language delay
Learning disability
50871440
50886978
15539
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case26
8 yrs. 1 mo.
F
Developmental delay
Speech and language delay
Learning disability
50882552
51087292
204741
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case27
20 yrs.
M
ASD and developmental delay
ASD, speech and language delay
No learning disability
50894953
51087292
192340
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case28
7 yrs. 10 mos.
F
ASD and developmental delay
ASD, speech and language delay
Learning disability
50894953
51155734
260782
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case29
4 yrs. 3 mos.
M
ASD and developmental delay
ASD, speech and language delay
Learning disability
50894953
51379119
484167
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case3
4 yrs.
M
ASD and developmental delay
ASD, speech and language delay.
Learning disability
50256514
50268753
12240
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case30
20 yrs.
M
ASD and developmental delay
ASD, speech and language delay, Wilm's tumor
Learning disability
50909933
51087292
177360
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case31
21 yrs.
M
ASD, DD, and epilepsy/seizures
ASD, speech and language delay, seizures
Learning disability
50921370
51024419
103050
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case32
7 yrs. 10 mos.
M
ASD and developmental delay
ASD, speech and language delay
Learning disability
50925914
51033474
107561
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case33
3 yrs.
F
Congenital heart defect
Tetralogy of Fallot
No learning disability
50985141
51009921
24781
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case34
4 yrs.
M
ASD and developmental delay
ASD, speech and language delay
Learning disability
51009862
51033474
23613
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case4
13 yrs.
M
ASD and ADHD
ASD, speech and language delay, pectus excavatum, ADHD
Learning disability
50256514
50268753
12240
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case5
2 yrs.
F
Developmental delay
Speech and language delay, gross motor delay
Learning disability
50256514
50268753
12240
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case6
11 yrs. 4 mos.
M
Developmental delay and epilepsy/seizures
Speech and language delay, seizures, hypotonia, anal stenosis
Learning disability
50339830
50669923
330094
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case7
24 yrs.
F
ASD, DD, and epilepsy/seizures
ASD, speech and language delay, seizures
Learning disability
50463846
50642926
179081
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case8
5 yrs. 10 mos.
M
Developmental delay
Speech and language delay
Learning disability
50482400
50532862
50463
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case9
5 yrs. 4 mos.
M
ASD, DD, and epilepsy/seizures
ASD, speech and language delay, seizures
Learning disability
50654857
50720591
65735
GRCh38
Deletion
Yes
annunziata_21_ASD_discovery_cases-caseIB201
NA
M
ASD
Case diagnosed with ASD (ADOS comparative score 7, ADOS social affect domain score 1.1, ADOS restricted and repetitive behaviors domain score 1.25. Birth/neonatal history: normal pregnancy, born at term via eutocic delivery. EEG: ample slow waves and spikes of possible epileptiform significance while falling asleep. Brain imaging: mega cisterna magna. Additional medical history: minor cardiac malformations. Dysmorphic features: none. Growth parameters: height and weight both around 97th %ile; macrocephaly (head circumference >97th %ile). Family history: negative.
Total IQ/GQ 70
49812033
50508361
696329
GRCh38
Duplication
Yes
annunziata_21_ASD_discovery_cases-caseIB255
NA
M
ASD
Case diagnosed with ASD (ADOS comparative score 10, ADOS social affect domain score 1.5, ADOS restricted and repetitive behaviors domain score 1). Birth/neonatal hisstory: pregnancy history not known (mother with a history of alcoholish); born preterm. EEG: diffuse irregular sharp-wave sequences while falling asleep. Brain imaging: mild signs of prematurity. Additional medical history: none. Dysmorphic features: none. Growth parameters: height 50th-75th %ile, weight 50th-75th %ile. Family history: unknown (adopted).
Total IQ/GQ 38
50839439
50873274
33836
GRCh38
Deletion
Yes
annunziata_21_ASD_discovery_cases-caseIB270
NA
F
ASD
Case diagnosed with ASD (ADOS comparative score 6, ADOS social affect domain score 1.3, ADOS restricted and repetitive behaviors domain score 1. Birth/neonatal history: normal pregnancy, born at term via eutocic delivery. EEG: diffuse epileptiform discharges during sleep, prevalent in the bilateral fronto-temporal region. Brain imaging: normal. Additional medical history: none. Dysmorphic features: none. Growth parameters: height 3rd-10th %ile, weight 3rd-10th %ile, head circumference 25th-50th %ile. Family history: negative.
Total IQ/GQ was not tested
50948586
51101704
153119
GRCh38
Deletion
Yes
annunziata_21_ASD_discovery_cases-caseIB275
NA
M
ASD
Case diagnosed with ASD (ADOS comparative score 8, ADOS social affect domain score 1.7, ADOS restricted and repetitive behaviors domain score 1.5. Birth/neonatal history: normal pregnancy, born at term via eutocic delivery. EEG: diffuse irregular sharp-wave sequences while falling asleep. Brain imaging: mild posterior periventricular hyperintensity. Additional medical history: none. Dysmorphic features: none. Growth parameters: height 97th %ile, weight 75th %ile, head circumference 75th-90th %ile. Family history: positive for ASD (paternal and maternal families).
Total IQ/GQ 50
51131712
51352554
220843
GRCh38
Deletion
Yes
ben-david_11_ASD_discovery_cases-proband15
NA
NA
ASD
NA
NA
49131265
50953285
1822000
Unknown
Deletion
No
bena_13_ASD/DD/ID_discovery_cases-case1
13 yrs.
M
ASD and intellectual disability
Motor developmental delay, language delay, seizures, hypotonia, dysmorphic features, growth -2.5 SD, sleep disturbance
Severe intellectual disability
50113358
51263358
1150001
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case10
11 yrs.
M
ASD and intellectual disability
Lanaguge delay, seizures, dysmorphic features, normal growth, periventricular nodular heterotopia, lambdoidsynsostosis, abnormal thumb, micropenis.
Intellectual disability
50767098
51090333
323236
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case11
17 yrs.
F
Other (non-ASD/-NDD)
Growth retardation
No intellectual disabilty
50786509
51076772
290264
GRCh38
Deletion
No
bena_13_ASD/DD/ID_discovery_cases-case12
11 yrs.
M
ASD
Motor developmental delay, language delay, hypotonia, growth +3 SD, temporal arachnoidal cyst, celiac disease. 2p16.3/NRXN1 deletion inherited from father with history of depression and ASD on the paternal side of the family.
No intellectual disabilty
50734778
51003136
268359
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case13
25 yrs.
M
Developmental delay/intellectual disability
Motor developmental delay, langauge delay, seizures, hypotonia, dysmorphic features, normal growth, OFC +2 SD.
Intellectual disability
50279146
50504064
224919
GRCh38
Deletion
No
bena_13_ASD/DD/ID_discovery_cases-case14
10 yrs.
M
Developmental delay/intellectual disability
Motor developmental delay, language delay, normal growth and OFC. Older brother (bena_13_ASD/DD/ID_discovery_cases-case15) also carries 2p16.3/NRXN1 deletion and 18q23 triplication.
Intellectual disability
50577842
50794350
216509
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case15
11 yrs.
M
Developmental delay/intellectual disability
Motor developmental delay, language delay, normal growth and OFC, hyperactivity. Younger brother (bena_13_ASD/DD/ID_discovery_cases-case14) also carries 2p16.3/NRXN1 deletion and 18q23 triplication.
Intellectual disability
50577842
50794350
216509
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case16
6 yrs.
M
Developmental delay/intellectual disability
Motor developmental delay, language delay, hypotonia, dysmorphic features, normal growth and OFC.
Intellectual disability
50817937
51034322
216386
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case17
8 yrs.
F
Developmental delay/intellectual disability
Motor developmental delay, seizures, dysmorphic features, normal growth, limb stereotypes.
Intellectual disability
50613140
50829323
216184
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case18
24 yrs.
M
ASD and intellectual disability
Motor developmental delay, seizures, normal muscle tone (no hypotonia), normal growth, hyperactivity, hydrocephalus communicans, hyperacusis, hyperlaxity.
Intellectual disability
50948358
51131884
183527
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case19
10 yrs.
F
ASD and intellectual disability
Motor developmental delay, language delay, seizures, hypotonia, normal growth, OFC +1 SD, hyperactivity. Case carries inherited compound heterozygous 2p16.3/NRXN1 deletion.
Intellectual disability
50882552
51063885
181334
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case19
10 yrs.
F
ASD and intellectual disability
Motor developmental delay, language delay, seizures, hypotonia, normal growth, OFC +1 SD, hyperactivity. Case carries inherited compound heterozygous 2p16.3/NRXN1 deletion.
Intellectual disability
50882552
51283823
401272
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case2
8 yrs.
M
ASD
Normal growth
No intellectual disabilty
50716390
51331953
615564
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case20
12 yrs.
M
Developmental delay
Language delay, normal growth and OFC
50873274
51024419
151146
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case21
8 yrs.
M
ASD and intellectual disability
Motor developmental delay, language delay, normal growth, OFC +1.5 SD, hyperactivity. 2p16.3/NRXN1 deletion inherited from mother diagnosed with attention deficit disorder and atypical autism (mostly impairments in social interaction).
Intellectual disability
50816360
50925968
109609
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case22
59 yrs.
M
ASD and intellectual disability
Normal motor development, hypotonia, growth -3 SD.
Intellectual disability
50894752
50999231
104480
GRCh38
Deletion
No
bena_13_ASD/DD/ID_discovery_cases-case23
15 yrs.
M
ASD and intellectual disability
Motor developmental delay, language delay, seizures, dysmorphic features, normal growth, hyperactivity.
Intellectual disability
50393101
50486385
93285
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case24
7 yrs.
M
ASD and intellectual disability
Motor developmental delay, language delay, normal growth. Younger brother (bena_13_ASD/DD/ID_discovery_cases-case25) diagnosed with ASD and ID also carries 2p16.3/NRXN1 deletion, which was transmitted from a father with mild autistic features.
Intellectual disability
50860892
51340397
479506
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case25
5 yrs.
M
ASD and intellectual disability
Normal growth. Older brother (bena_13_ASD/DD/ID_discovery_cases-case24) diagnosed with ASD and ID also carries 2p16.3/NRXN1 deletion, which was transmitted from a father with mild autistic features.
Intellectual disability
50860892
51340397
479506
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case3
12 yrs.
F
ASD and intellectual disability
Motor developmental delay, language delay, seizures, dysmorphic features, growth -2.5 SD, OFC -2.2 SD, hyperactivity, Angelman-like symptoms
Moderate developmental delay, intellectual disability
50741114
51352724
611611
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case4
5 yrs.
M
Developmental delay/intellectual disability
Motor developmental delay, hypotonia, normal growth, OFC -1 SD
Intellectual disability
50558041
51087389
529349
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case5
26 yrs.
F
Developmental delay/intellectual disability
Language delay, seizures, dysmorphic features, growth -1 SD, OFC -1.5 SD, kyphoscoliosis. 2p16.3/NRXN1 deletion inherited from mother with learning difficulties and depression.
Intellectual disability
50296198
50765153
468956
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case6
10 yrs.
M
ASD and intellectual disability
Motor developmental delay, language delay, seizures, hypotonia, dysmorphic features, normal growth.
Intellectual disability
50703043
51099359
396317
GRCh38
Deletion
No
bena_13_ASD/DD/ID_discovery_cases-case7
31 yrs.
M
ASD and intellectual disability
Motor developmental delay, langauge delay, normal msucle tone (no hypotonia), dysmorphic features, normal growth and OFC, hyperactivity, automutilation and aggressive behavior. 2p16.3/NRXN1 deletion inherited from mother with moderate ID and possible autistic-like features.
Intellectual disability
50561587
50960161
398575
GRCh38
Deletion
Yes
bena_13_ASD/DD/ID_discovery_cases-case8
55 yrs.
M
Other (non-ASD/-NDD)
Osteogenesis imperfecta
50636024
50999696
363673
GRCh38
Deletion
No
bena_13_ASD/DD/ID_discovery_cases-case9
10 yrs.
F
ASD and intellectual disability
Language delay, seizures, dysmorphic features, normal growth. 2p16.3/NRXN1 deletion inherited from mother with anxiety and depression.
Intellectual disability
50814334
51143323
328990
GRCh38
Deletion
No
benitez-burraco_23_DD/ID_discovery_cases-case1
8 yrs. 1 mo.
F
Developmental delay, intellectual disability, and autistic features
Birth/neonatal history: born by C-section after an uncomplicated pregnancy; birth weight 2.6 kg; presented with congenital torticollis; fed with artificial lactation with smooth transition to solid foods. Developmental milestones: diagnosed with global psychomotor developmental delay at 9 months; severe mixed language delay. Language and communication evaluation: impaired language characterized by altered speech production, underdeveloped phonological awareness, minimal syntax, severe shortage of active vocabulary, impaired receptive language, inappropriate pragmatic behavior (including lack of metapragmatic awareness and communicative use of gaze). Behavioral/psychiatric evaluation: attention deficit, poor imitation capacity, absence of symbolic play, difficulties with normal social interaction, difficulties expressing and identifying emotions, ritualized and disordered sensory behaviors (smelling objects), impaired theory of mind, impulsivity. Brain imaging: brain MRI at 13 months suggested an increase in extra-axial spaces, supratentorial ventriculomegaly, and mega cisterna magna. Additional medical history: anemia at 17 months of age. Family history: father with motor tics, paternal uncle with schizophrenia and intellectual disability, and paternal great-grandmother with cognitive and motor impairment.
Moderate intellectual disability, learning difficulties
50534639
50720591
185953
GRCh38
Deletion
No
bermudez-wagner_13_DD_discovery_cases-case1
9 yrs.
F
Developmental delay
Birth/neonatal history: pregnancy complicated by pre-eclampsia at 18 weeks of gestation; delivery by C-section for premautre rupture of membranes. Developmental milestones: sat unsupported at 12 months, walked at 2 years, said first words at 1 year, used phrases between 30-36 months; at 8 years of age, case was 6-18 months behind her peers. Language and communication evaluation: speech delay, halting speech. Motor and musculoskeletal evaluation: hypotonia, hyperreflexia, poor coordination and balance; brachydactyly, 5th finger clinodactyly, single crease on each 5th finger, hallus valgus, small 2nd toes. Other features: medical history comprised a Morgagni-type diaphragmatic defect, patent ductus arteriosus, and umbilical hernia that were all surgically repaired, as well as failure to thrive, gastrointestinal reflux disease, astigmatism, asthma, and recurrent otitis media requiring tympanostomy tubes. Dysmorphic features: plagiocephaly, bilateral ptosis with downslanting palpebral fissures, long nose with anteverted nares, smooth philtrum, wide mouth, thin upper lip, high palate, dimples on both lateral gluteal areas and sacral area, nail hypoplasia on hands and feet. Growth parameters: short stature; height 108 cm (<3rd %ile), weight 16.8 kg (<3rd %ile), head circumference 47 cm (<3rd %ile). Family history: twin sister died at 28 days with necrotizing enterocolitis; case currently has a healthy 12-year-old sister (genetic testing results N/A); father diagnosed with ADHD, cognitive difficulties early in life, obesity, sleep apnea, left ventricular cardiomyopathy, severe asthma, astigmatism, and left-sided esotropia; paternal great-aunt and her son reportedly had mental retardation.
Developmental delay
50809965
50999092
189128
GRCh38
Deletion
No
brandler_16_ASD_discovery_cases_probandIII-2
N/A
M
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician. Family history: NRXN1 deletion occurred de novo in unaffected mother (II-1); case has an older brother with ASD who did not inherit NRXN1 deletion (III-1).
50603766
50769367
165602
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000322
N/A
M
ASD
Case from REACH cohort
50603762
50769364
165603
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC07045
N/A
M
ASD
Case from SSC_phase1 cohort
50928135
51432922
504788
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC08567
N/A
M
ASD
Case from SSC_phase1 cohort
51007302
51106589
99288
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case2-1428-003
N/A
M
ASD
Case from MSSNG cohort
50527083
50773241
246159
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case3-0207-000
N/A
M
ASD
Case from MSSNG cohort
50951513
51147537
196025
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-case3-0368-000
N/A
M
ASD
Case from MSSNG cohort
50340805
50830652
489848
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU4145301
N/A
M
ASD
Case from MSSNG cohort
50953771
51022928
69158
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU4145303
N/A
M
ASD
Case from MSSNG cohort
50953771
51022928
69158
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC12931
N/A
M
ASD
Case from SSC_phase2 cohort
50859177
50935252
76076
GRCh38
Deletion
No
bremer_11_ASD_discovery_cases-case1
6
F
ASD
Non-syndromic ASD, sporadic case
MR (IQ<70)
50894953
51063885
168933
GRCh38
Deletion
Yes
bremer_11_ASD_discovery_cases-case1
6
F
ASD
Non-syndromic ASD, sporadic case
MR (IQ<70)
50882552
51301336
418785
GRCh38
Deletion
Yes
bucan_09_ASD_discovery_cases-patient10
NA
ASD
NA
NA
373015
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient11
NA
ASD
NA
NA
439406
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient8
NA
ASD
NA
NA
152437
Unknown
Deletion
Yes
bucan_09_ASD_discovery_cases-patient9
NA
ASD
NA
NA
241327
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient3
NA
ASD
NA
NA
134010
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient4
NA
ASD
NA
NA
161199
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient5
NA
ASD
NA
NA
256373
Unknown
Deletion
Yes
bucan_09_ASD_replication_cases-patient6
NA
ASD
NA
NA
533842
Unknown
Deletion
Yes
cameli_21_ASD_discovery_cases-case1
5 yrs.
F
ASD
Case diagnosed with ASD at 35 months (CARS2-ST and ADOS-2 module 1). Birth/neonatal history: no pre-, peri-, or post-natal relevant findings; birth weight 3690 g (50th %ile), birth length 56 cm (85th-97th %ile). Developmental milestones: slight delay in socio-communicative abilities followed by regression of acquired socio-communicative abilities at 18-19 months; speech delay. Language and communication evaluation: languge expression limited to 4 single words at 4.6 years; language comprehension appeared to be slightly better. Behavioral/psychiatric evaluation: poor eye contact; social isolation; loss of imitiation skills, communicative gestures, and language; hyperactivity; short attention span; stereotypy (hand flapping when excited); sensory interests (manipulation of materials to get visual, acoustic, and tactile stimulation); restricted interests. Epilepsy/seizures: none reported. EEG: slow activity in the right temporal regions at 2.8 years. Brain imaging: not performed. Growth parameters: congenital macrocephaly (HC at birth, 31 months, and 60 months >98th %ile). Family history: this deletion was inherited from an unaffected mother, and no family history of ASD, congenital malformations, or intellectual disability was reported.
Cognitive and psychomotor development level could not be assessed using standardized scales due to lack of child's compliance; assessment of adaptive behavior (VABS) at 4.8 years showed significant delays in Communication, Daily Living Skills, Socialization, and Motor Skills domain (age equivalent of 1.6 years).
49943627
50755034
811408
GRCh38
Deletion
Yes
chan_22_ASD_discovery_cases-case3-0207-000
NA
M
ASD and developmental delay
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Developmental milestones: developmental regression (loss of a 5-word vocabulary at 13 months, followed by re-emergence of speech a few months later), receptive language delay, expressive language delay. Dysmorphic features: midface hypoplasia, outstanding ears, low frontal hairline (this feature was also present in both parents). Growth parameters: macrocephaly (head circumference +2.5 SD) (this feature was also present in both parents). Family history: his father received special education at school and had pediatric-onset depression.
50951514
51147537
196024
GRCh38
Deletion
No
chan_22_ASD_discovery_cases-case3-0368-000
NA
M
ASD and seizures
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Birth/neonatal history: patent ductus arteriosus noted at birth (closed spontaneously). Epilepsy/seizures: seizures. Brain imaging: nodular heterotopia of the frontal lobe. Additional medical history: hypertropic cardiomyopathy (resolved and attributed to insulin-dependent diabetes mellitus during pregnancy). Dysmorphic features: frontal cowlick, long palpebral fissures, midface hypoplasia, wide mouth. Growth parameters: macrocephaly.
Cognitive evaluation at 6 years 3 months demonstrated a full scale IQ score of 98, a listening comprehension standard score of 91 (27th centile), and an oral expression standard score of 87 (19th centile).
50340806
50830652
489847
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case10
2 yrs.
M
PDD-NOS
Diagnosis of PDD-NOS (ADOS). Expressive & receptive language delay. Dysmorphic features: dolichocephaly (32 wk premature infant). Hemangioma on back.
Normal
50633655
50772687
139033
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case11
8 yrs.
M
Other
Proximal & distal weakness, hypotonia. Chest-right mild Poland anomaly. Eczema. Family history: mother with history of joint hypermobility, osteoarthritis, mitral valave prolapse, severe migraines, & severe breast asymmetry (mother was source of 2p16.3 deletion, 15q26.3 duplication, and 17p11.2 duplication).
Normal
50654857
50730376
75520
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case12
19 mos.
F
Other
Dysmorphic features: relative macrocephaly (head circumference 90%ile), cupping of left ear, frontal bossing. Open anterior fontanelle at 19 mos. Cardiac anomalies: small muscular ventricular septal defect (VSD), fenestration in atrial septum, small patent ductus arteriosus (PDA).
Not evaluated
50654857
50720591
65735
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case3
10 mos.
F
Developmental delay
Mild gross motor delay, hypotonia. Dysmorphic features: epicanthal folds, hypertelorism. Prominent coronal sutures, smaller bifrontal region, feet: high arches & somewhat small length
Not evaluated
50816360
51131743
315384
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case4
4 yrs.
M
PDD-NOS
Diagnosis of PDD-NOS (ADOS). Expressive language delay. Hypotonia. Behavioral features: attention concerns. Normal EEG. Facial dysmorphism: down-slanting palpebral fissures, up-turned nose, mild retrognathia, pointed chin. Famiyl history: socially akward father (source of 2p16.3 deletion).
WPPSI-III: Verbal IQ, 77; Performance IQ, 98 (testing at 4 yrs.)
50856272
51087292
231021
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case5
6 yrs.
F
Developmental delay
6 month receptive language delay. Curved 2nd toes, incomplete fusion of ring of 1st cervical vertebra. Narrowed aortic arch, 2 ventricular septal defects (VSDs)
Normal
50839440
50978827
139388
GRCh38
Deletion
No
ching_10_ASD/DD/MR_discovery_cases-case6
7 yrs.
F
PDD-NOS
Diagnosis of PDD-NOS (ADOS). Expressive language delay. Motor coordination disorder. No dysmorphic features. Bilateral hip dysplasia. Prolonged correct QT interval (QTc, 457 ms; normal < 440 ms), hemagomia. Family history: mother with history of language delay & social skills difficulties (mother was source of 2p16.3 deletion).
Bayley II Mental Scale 91, 29 mos. (age at testing, 31 mos.)
50978768
51235754
256987
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case7
14 yrs.
M
Autism + mental retardation
Diagnosis of autism (ADOS). Expressive & receptive language delay. Hyperactivity. Normal EEG. Dysmorphic features: slightly deep set eyes, large ears.
Mental retardation. Stanford-Binet 5th edition: Full-scale IQ, 47; Verbal IQ, 46; Non-verbal IQ, 53.
51009862
51131743
121882
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case8
11 yrs.
F
Mental retardation
Expressive & receptive language delay. Behavioral features: inattention, fidgety, disorganized. Dysmorphic features: long face, malar hypoplasia, prominent tubular nose with pointed nasal tip, hypoplastic alae nase, long flat philtrum, thin vermilion, prominent chin, long slender fingers, thin toes.
Mental retardation. WISC-IV: Verbal Comprehension Index, 67; Perceptual Reasoning Index, 63; Working Memory Index, 59; Processing Speed Index, 75; Full-scale IQ, 58 (testing at 11 yrs.)
50442250
50747125
304876
GRCh38
Deletion
Yes
ching_10_ASD/DD/MR_discovery_cases-case9
4 yrs.
F
Developmental delay
Expressive & receptive language delay. Hypotonia. Behavioral features: impulsivity & inattention. Dysmorphic features: low nasal bridge, small jaw, very smooth philtrum, slightly flat mid-face and prominent cheeks. Mild clinodactyly & uneven digit lengths.
50608638
50772687
164050
GRCh38
Deletion
Yes
coe_14_ASD/DD/ID_discovery_cases-case511
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case512
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case513
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case514
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case515
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case516
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case517
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case518
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case519
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case520
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case521
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case522
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case523
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case524
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case525
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case526
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case527
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case528
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case529
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case530
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case531
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case532
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case533
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case534
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case535
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case536
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case537
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case538
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case539
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_cases-case540
N/A
N/A
Intellectual disability, developmental delay, and/or ASD
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case103
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
50822506
50882611
60106
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case245
NA
NA
ASD, ADHD, and DCD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R; this case was also diagnosed with developmental coordination disorder (DCD) and ADHD. EEG: frequent sharp waves of very short duration in frontal regions bilaterally.
49967048
50011429
44382
GRCh38
Deletion
No
dabell_13_ASD/DD/ID_discovery_cases-patient10
8 yrs.
F
PDD-NOS and ADHD
Indication for study: pervasive developmental disorder (PDD). Neurological features: IQ 76, speech delay, tic disorder, hypotonia. Behavioral features: pervasive developmental disorder-not otherwise specified (PDD-NOS), ADHD. Dysmorphic features: prominent forehead, deep-set eyes, upslanting palpebral fissures, prominent nose with broad tip, high palate, maxillary hypoplasia, underbite. Ophthalmologic features: retinopathy. Skeletal/joint features: ligamentous laxity, hammertoes. Other anomalies: none. Growth parameters: height 27th %ile; weight 25th %ile; OFC 80th %ile. Family history: adopted.
IQ 76
50910263
51108604
198342
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient11
Prenatal
M
MCA and premature death
Indication for study: cystic hygroma, hydrops, micrognathia. Dysmorphic features: prominent eyes, ridge coronal suture, micrognathia, webbed neck. Other anomalies: septated cystic hygroma, hydrops, peripheral branch pulmonic stenosis; deceased (sepsis). Family history: father with 2p16.3/NRXN1 deletion is healthy.
50908507
51097510
189004
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient12
13 yrs.
M
Intellectual disability
Indication for study: mild intellectual disability, hearing loss. Neurological features: mild ID, speech delay, hypotonia, hearing loss (due to infection). Behavioral features: attention deficit disorder (ADD). Dysmorphic features: deep-set eyes, short palpebral fissures, midface hypoplasia, bulbous nose, irregular teeth, protruding & malformed ears. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: allergies. Growth parameters: height 50th-75th %ile; weight 50th-75th %ile; OFC 50th %ile. Family history: mother with 2p16.3/NRXN1 deletion has bipolar disorder; paternal family history of learning disabilities.
Mild intellectual disability
50809965
51087292
277328
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient13
7 yrs.
M
Developmental delay and epilepsy
Indication for study: developmental delay, epilepsy.
Developmental delay
50847379
51077228
229850
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient14
0 mos.
F
MCA
Indication for study: congenital heart defect. Neurological features: hypotonia, white matter injury. Behavioral features: N/A. Dysmorphic features: upslanting palpebral fissures, narrow nose. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: failure to thrive, hypoplastic right heart, atrial septal defect, absent plumonary valve, tricuspid stenosis, pulomnary atresia, grade II vesicoureteral reflux, chronic lung disease, hepatomegaly, small gall bladder, hyperbilirubinemia. Growth parameters: height <3rd %ile; weight 3rd %ile; OFC 3rd-10th %ile. Family history: N/A.
50819858
51077228
257371
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient15
12 yrs.
F
Epilepsy
Indication for study: epilepsy.
50918507
51050275
131769
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient16
5 yrs.
F
Developmental delay
Indication for study: developmental delay/intellectual disability, hypotonia, dysmorphic features. Neurological features: developmental delay, hypotonia. Behavioral features: none. Dysmorphic features: epicanthal folds, wide nasal bridge, minor hypertrichosis. Ophthalmologic features: none. Skeletal/joint features: mildly short 4th metacarpals. Other anomalies: none. Growth parameters: height 50th %ile; weight 25th-50th %ile; OFC <3rd %ile. Family history: non-contributory.
Developmental delay
50847379
51043935
196557
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient17
6 yrs.
M
Developmental delay
Indication for study: developmental delay. Neurological features: global developmental delay, has 3-4-word sentences, hyperintense signal in splenium of corpus callosum. Behavioral features: none. Dysmorphic features: none. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: unilateral cryptorchidism. Growth parameters: height 10th-25th %ile; weight 25th-50th %ile; OFC 50th-75th %ile. Family history: three brothers (not tested) with speech delay.
Global developmental delay
50819858
51043935
224078
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient18
56 yrs.
M
Intellectual disability and PDD
Indication for study: severe intellectual disability, pervasive developmental disorder (PDD). Neurological features: severe ID, childhood seizures. Behavioral features: pervasive developmental disorder (PDD), self-injurious. Dysmorphic features: large chin, narrow palate. Ophthalmologic features: congenital cataract, anisocoria. Skeletal/joint features: brachydactyly. Other anomalies: none. Growth parameters: height <3rd %ile; weight 10th %ile; OFC 25th-50th %ile. Family history: non-contributory.
50584244
51169783
585540
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient19
22 yrs.
M
ASD and developmental delay
Indication for study: developmental delay, ASD. Neurological features:.
50819858
50939915
120058
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient20
0 mos.
F
MCA
Indication for study: multiple congenital anomalies.
50819858
50969109
149252
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient21
21 mos.
M
Developmental delay
Indication for study: developmental delay, dysmorphic features. Neurological features: developmental delay, absent speech, hearing loss ("glue ear"). Behavioral features: none. Dysmorphic features: round cranial vault, displaced hair whorl, deep-set eyes, midface hypoplasia. Ophthalmologic features: none. Skeletal/joint features: arm & leg rhizomelia, leg length discrepancy. Other anomalies: none. Growth parameters: height 50th-70th %ile; weight 50th-75th %ile; OFC N/A. Family history: father with 2p16.3/NRXN1 deletion has type 1 diabetes.
Developmental delay
50939792
51029332
89541
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient22
6 yrs.
M
ASD and developmental delay
Indication for study: developmental delay, ASD. Neurological features: global developmental delay, posturing, toe walking. Behavioral features: ASD. Dysmorphic features: none. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: none. Growth parameters: height 90th-97th %ile; weight 90th-97th %ile; OFC 90th-97th %ile. Family history: mother (not tested) with anxiety; maternal and paternal history of OCD.
Global developmental delay
50908567
51003857
95291
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient23
Prenatal
M
MCA and premature death
Indication for study: cystic hygroma, shortened upper limbs, fetal demise. Skeletal/joint features: limbs fixed in flexion. Other anomalies: large cystic hygroma; demise at 15 weeks gestation. Family history: father with 2p16.3/NRXN1 deletion is healthy.
50908507
51003857
95351
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient24
12 yrs.
F
Hypotonia and encephalopathy
Indication for study: hypotonia, encephalopathy.
50754974
50999091
244118
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient25
9 yrs.
F
Multiple disabilities
Indication for study: multiple disabilities.
50548751
50999091
450341
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient26
15 mos.
F
Developmental delay
Indication for study: developmental delay. Neurological features: developmental delay, hypotonia, myoclonic choreiform movements, normal EEG. Behavioral features: short attention span. Dysmorphic features: midface hypoplasia, depressed nasal bridge, low posterior hairline, hypo-/hyperpigmentation patterns. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: none. Growth parameters: height 10th-25th %ile; weight 5th %ile; OFC 50th %ile. Family history: mother (not tested) with learning disability.
Developmental delay
50548751
50915770
367020
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient27
Prenatal
M
Abnormal ultrasound
Indication for study: abnormal ultrasound.
50599682
50840490
240809
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient28a
11 yrs.
M
ASD and developmental delay
Indication for study: ASD. Neurological features: developmental delay, minimal speech, generalized seizure disorder. Behavioral features: Autism. Dysmorphic features: midface hypoplasia, underbite, widely spaced teeth, eversion of upper lip, prominent ears. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: cardiomegaly, resolved (twin-twin transfusion); allergies, anemia. Growth parameters: height 10th-25th %ile; weight 10th-25th %ile; OFC 25th-50th %ile. Family history: identical twin brother with 2p16.3/NRXN1 deletion has developmental delay and PDD; father (no deletion) with ADHD; paternal family history of seizures.
Developmental delay
50422503
50784427
361925
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient29
12 yrs.
M
ASD and developmental delay
Indication for study: dysmorphic features, ASD. Neurological features: global developmental delay, hypotonia, abnormal periventricular white matter, tortuous optic nerves. Behavioral features: Autism. Dysmorphic features: frontal hair upsweep, facial hemangioma, flat midface, wide nasal bridge, bulbous nose, small jaw, supernumerary incisor, posteriorly rotated ears, hypoplastic nails. Ophthalmologic features: esotropia. Skeletal/joint features: pes planus, tapered fingers. Other anomalies: failure to thrive in infancy, heart murmur, echo, laryngeal stenosis, inguinal hernias, asthma. Growth parameters: height 5th; weight 70th; OFC 45th. Family history: mother with 2p16.3/NRXN1 deletion is healthy, although has short attention span; maternal family history of learning disabilities; maternal and paternal family history of neuropsychiatric disease.
Global developmental delay; IQ 47
50400005
50519720
119716
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient30
5 yrs.
F
Developmental delay
Indication for study: pervasive developmental disorder (PDD). Neurological features: none. Behavioral features: PDD, attention deficit disorder (ADD), aggression. Dysmorphic features: midface hypoplasia, shirt nose, micrognathia, high palate, smooth philtrum. Ophthalmologic features: blepharophimosis. Skeletal/joint features: brachydactyly, especially thumbs; pes planus. Other anomalies: generalized lymphedema, constipation. Growth parameters: height 50th-75th %ile; weight 75th-90th %ile; OFC 25th-50th %ile. Family history: mother (not tested) with anxiety, paternal cousin (not tested) with Asperger syndrome.
Developmental delay
50599682
50639824
40143
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient31
5 yrs.
F
Encephalopathy
Indication for study: encephalopathy.
50539493
50570028
30536
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient32
15 mos.
F
MCA
Indication for study: multiple congenital anomalies. Neurological features: low average motor skills, hypotonia. Behavioral features: tantrums. Dysmorphic features: plagiocephaly, broad forehead, short nose, smooth philtrum, micrognathia, thin upper lip, earlobe creases. Ophthalmologic features: blepharophimosis. Skeletal/joint features: overlapping 3rd/4th toes. Other anomalies: failure to thrive, diastasis recti. Growth parameters: height 50th %ile; weight 97th %ile; OFC >97th %ile. Family history: mother (not tested) with learning disabilities; father (not tested) with ADHD and depression.
50621833
50745146
123314
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient33a
6 yrs.
F
Developmental delay
Indication for study: developmental delay. Family history: older brother (dabell_13_ASD/DD/ID_discovery_cases-patient33b) with 2p16.3/NRXN1 deletion and autism.
Developmental delay
50190522
50856331
665810
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient33b
7 yrs.
M
Autism
Indication for study: autism. Family history: younger sister (dabell_13_ASD/DD/ID_discovery_cases-patient33a) with 2p16.3 NRXN1 deletion and developmental delay.
50190522
50856331
665810
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient34a
15 yrs.
F
ASD, ADHD, and intellectual disability
Indication for study: developmental delay, ASD. Neurological features: moderate ID, hypotonia, normal brain CT. Behavioral features: ASD, OCD, ADHD, anxiety, aggression, residential placement. Dysmorphic features: narrow palpebral fissures. Ophthalmologic features: none. Skeletal/joint features: joint hypermobility, pes planus. Other anomalies: None. Growth parameters: height 62nd %ile; weight 96th %ile; OFC >98th %ile. Family history: younger maternal half-sister (dabell_13_ASD/DD/ID_discovery_cases-patient34b) with 2p16.3/NRXN1 deletion and ADHD.
Moderate intellectual disability
50038168
50099069
60902
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient34b
7 yrs.
F
ADHD
Indication for study: ADHD. Neurological features: normal intelligence, normal brain MRI. Behavioral features: ADHD. Dysmorphic features: none. Ophthalmologic features: none. Skeletal/joint features: joint hypermobility. Other anomalies: none. Growth parameters: height 45th %ile; weight 36th %ile; OFC >98th %ile. Family history: older maternal half-sister (dabell_13_ASD/DD/ID_discovery_cases-patient34a) with 2p16.3/NRXN1 deletion and ASD.
No intellectual disability
50038168
50099069
60902
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient35
0 mos.
F
Congenital heart disease
Indication for study: congenital heart disease.
50745086
50908567
163482
GRCh38
Deletion
No
dabell_13_ASD/DD/ID_discovery_cases-patient36
2 yrs.
F
Developmental delay
Indication for study: developmental delay, short stature.
Developmental delay
51043875
51169783
125909
GRCh38
Deletion
No
dabell_13_ASD/DD/ID_discovery_cases-patient37
3 yrs.
F
Developmental delay and epilepsy
Indication for study: developmental delay, epilepsy.
Developmental delay
51043875
51273452
229578
GRCh38
Deletion
No
dabell_13_ASD/DD/ID_discovery_cases-patient4
23 yrs.
M
ASD
Indication for study: ASD.
50908507
51594649
686143
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient5a
23 yrs.
M
Developmental delay and epilepsy
Indication for study: developmental delay, epilepsy. Neurological features: profound ID (anoxic brain injury during surgery, nonverbal. Behavioral features: none. Dysmorphic features: high nasal bridge, bitemporal narrowing, bulbous nasal tip, macroglossia, high palate. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: sinus and atrioventricular node dysfunction, cutaneous 2-5 finger syndactyly, mild 2-3 toe syndactyly. Growth parameters: height 25th-50th %ile; weight 25th-50th %ile; OFC 75th-98th %ile. Family history: younger brother (dabell_13_ASD/DD/ID_discovery_cases-patient5b) with 2p16.3/NRXN1 deletion with developmental delay/intellectual disability and ADHD; younger sister with 2p16.3/NRXN1 deletion with dyslexia but normal development; maternal (deletion) and paternal history of ADHD; father (no deletion) with learning disabilites.
Severe ID
50915710
51474869
559160
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient5b
20 yrs.
M
Developmental delay/intellectual disability and ADHD
Indication for study: developmental delay, dysmorphic features. Neurological features: IQ 65, speech delay, bilateral ptosis. Behavioral features: ADHD. Dysmorphic features: bitemporal narrowing, high nasal bridge, bulbous nasal tip, pointed chin, high palate. Ophthalmologic features: strabismus (wears glasses). Skeletal/joint features: none. Other anomalies: sinus and atrioventricular node dysfunction, cutaneous 2-4 finger syndactyly, mild 2-3 toe syndactyly. Growth parameters: height 25th-50th %ile; weight 25th-50th %ile; OFC 50th-98th %ile. Family history: older brother (dabell_13_ASD/DD/ID_discovery_cases-patient5a) with 2p16.3/NRXN1 deletion and developmental delay and epilepsy as indication for study; younger sister with 2p16.3/NRXN1 deletion with dyslexia but normal development; maternal (deletion) and paternal history of ADHD; father (no deletion) with learning disabilites.
IQ 65
50915710
51474869
559160
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient6
10 yrs.
M
PDD-NOS
Indication for study: developmental delay, dysmorphic features, short stature. Neurological features: borderline ID, poor articulation. Behavioral features: pervasive developmental disorder-not otherwise specified (PDD-NOS). Dysmorphic features: mild midface hypoplasia, broad/short nails. Ophthalmologic features: mild myopia. Skeletal/joint features: hypoplastic phalanges, psuedoarthrosis of clavicle. Other anomalies: failure to thrive, allergies, mild eczema. Growth parameters: height <3rd %ile; weight 15th %ile; OFC 50th %ile. Family history: father with 2p16.3/NRXN1 deletion has learning disabilties, short stature, and knee problems.
Borderline intellectual disability
50908507
51273452
364946
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient7
11 yrs.
M
Developmental delay, ADHD, and bipolar disorder
Indication for study: developmental delay. Neurological features: developmental delay, IQ in 80s. Behavioral features: OCD, ADHD, bipolar disorder. Dysmorphic features: none. Ophthalmologic features: strabismus. Skeletal/joint features: none. Other anomalies: cryptorchidism, asthma, allergies. Growth parameters: height 75th %ile; weight >97th %ile; OFC 75th %ile. Family history: father (not tested) with bipolar disorder, asthma, and alcoholism.
Developmental delay; IQ in 80s
50707423
51237542
530120
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient8
2 yrs.
M
Developmental delay
Indication for study: developmental delay (language and motor delay). Neurological features: developmental delay, moderate expressive speech delay. Behavioral features: adaptive behavior deficits. Dysmorphic features: N/A. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: early history of GERD. Growth parameters: height 25th %ile; weight <3rd %ile; OFC <3rd %ile. Family history: mother (not tested) with significant speech delay.
50908507
51131053
222547
GRCh38
Deletion
Yes
dabell_13_ASD/DD/ID_discovery_cases-patient9
6 yrs.
M
Developmental delay
Indication for study: developmental delay, dysmorphic features. Neurological features: mild developmental delay, speech impediment, hypotonia. Behavioral features: repetitive mannerisms (improved). Dysmorphic features: small face, midface hypoplasia, flat nasal bridge, low-set & prominent ears. Ophthalmologic features: none. Skeletal/joint features: none. Other anomalies: cryptorchidism, Raynaud's phenomenon. Growth parameters: height 25th-50th %ile; weight 10th-25th %ile; OFC 10th-25th %ile. Family history: paternal family history of learning disabilities.
Mild developmental delay
50819858
51131053
311196
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300071
N/A
F
Developmental delay/intellectual disability
52207496
52342070
134575
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300160
N/A
M
Developmental delay/intellectual disability
48824076
49029191
205116
GRCh38
Deletion
No
duong_12_ASD_discovery_cases-proband
33 yrs.
M
Autism
DSM-IV diagnosis of autism based on psychopathological assessment of proband; autistic features ascertained by family interview and by medical records verifying childhood onset. Proband also fulfilled criteria of West syndrome (infantile spasms, hypsarrythmia, mental retardation). Birth/neonatal history: third out of three children (second child stillborn); born at full-term by C-section due to maternal dysregulated diabetes during pregnancy; Apgar scores of 9 and 10; normal medical exams at 5 weeks and 5 months. Developmental milestones: hypotonia, developmental delay, and psychomotor delay noted at 7 months; delayed development also noted at 1 year of age; walking reported at 3 years of age; social interaction and language development entirely lacking. Language and communication: deficient language, odd communication (indirect social interaction by using mother's hand to decline examination. Motor: poorly coordinated movements. Behavioral/psychiatric characteristics: lack of eye contact, hypersalivation, finger-lips mannerism, repetitive body-rocking, stereotypic movements, poorly coordinated movements, lack of social relatedness. Epilepsy/seizures: infantile spasms characterized by extensions of lower extremities, abduction of upper extremities, felxion of elbows, extensions of neck, and abductions of bulbus oculi; proband developed epilepsy characterized by generalized tonic-clonic seizures that were successfully treated with anti-epileptics at 11 years of age; exacerbation of epilepsy at 21 years of age, seizures persisted with approximately one seizure/week despite treatment with anti-epileptics. EEG (7 months): hypsarrythmia. Brain MRI (11 yrs.): moderate atrophy; cyst deflecting right hippocampus. Hearing: perceptive hearing impairment of 30 dB. Dysmorphic features: high forehead, straight superciliary arches, retracted eyes, thin upper lip, high positioned ears, flat occiput, straight collum, strabismus, sequela of a fracture of the nose. Growth parameters: NA. Family history: non-consanguineous parents; somatic-healthy older brother meeting DSM-IV criteria of psychotic disorder not otherwise specified and diagnostic criteria of alcohol dependence; mother with insulin-dependent diabetes (diagnosed at 31 yrs.) and subtle, sub-diagnostic autistic triats (lack of social relatedness, impairment of non-verbal expression); deceased father diagnosed with paranoid schizophrenia; maternal uncle met criteria of bipolar disorder. Other genetic chracteristics: proband also has paternally-inherited splice-site mutation (c.2880-1G->A, IVS14-1G->A) in NRXN1 gene.
Mental retardation/intellectual disability, initially diagnosed at 1 year of age.
50585753
51036374
450622
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13017_223
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50459235
50649904
190670
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13037_463
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50921934
51077100
155167
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13153_1703
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50909664
51141401
231738
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13205_2303
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49353427
49420887
67461
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13216_2383
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50887566
51133529
245964
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14024_490
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51036011
51161490
125480
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14068_1180
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50413185
50597193
184009
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14072_1250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48808575
48850993
42419
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14144_2420
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51076772
51145209
68438
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16074_1571042001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49957256
50326908
369653
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17027_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50995969
51066958
70990
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17034_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52179922
52355628
175707
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18121_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50718333
50831607
113275
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20071_1335001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52179922
52355628
175707
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21052_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50831607
50874445
42839
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2279_102
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
48867105
48923276
56172
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3320_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47928345
47970829
42485
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3394_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51076772
51108720
31949
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3394_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51359255
51399041
39787
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3473_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50655015
50723855
68841
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3485_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50645969
50749347
103379
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3513_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52540303
53040270
499968
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4193_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49367164
49512223
145060
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4504_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50655015
50723855
68841
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5072_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50831607
50874445
42839
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5201_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52070754
52170379
99626
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5413_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50655015
50723855
68841
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6125_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50741670
50805721
64052
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6197_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
50741670
50820220
78551
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6278_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
49433197
49516922
83726
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6296_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
51673698
51713901
40204
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8502_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
52602320
52666027
63708
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD287
1 yr. 6 mos.
M
ASD
CARS score 33 (mild severity)
50830822
51205903
375082
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0001116
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
50619906
50656389
36484
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0001151
N/A
M
ASD
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
50619906
50656389
36484
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000023
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S29
N/A
47805906
47820612
14707
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1091304
Autism
52151396
52225047
73652
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1091306
Autism
52151396
52237202
85807
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1274302
Autism
52426621
52521448
94828
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1419302
Autism
51022554
51101161
78608
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1419303
Autism
51022554
51101161
78608
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1495303
Autism
50882166
51255180
373015
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1495304
Autism
50882166
51255180
373015
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1679302
Autism
52426621
52510098
83478
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1679303
Autism
52426621
52513378
86758
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1764302
Autism
50470517
50522264
51748
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1848302
Autism
51033960
51051888
17929
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU019604
Autism
52447487
52506530
59044
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU041105
Autism
51033960
51275286
241327
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU041106
Autism
51033960
51275286
241327
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU054203
Autism
51134021
51184661
50641
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-12232.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
50915511
50999232
83722
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13580.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
51018423
51081029
62607
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13609.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
51009662
51101453
91792
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-13962.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
50565279
51024560
459282
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14443.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
50921170
51024560
103391
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1495303
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
50801771
51175460
373690
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU2681301
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
50805684
51034768
229085
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-1211_004
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-15062_68740
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-2367_004
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_discovery_cases-NIMH_157-1155-001_06C58406A
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU041105
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU041106
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU054203
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU1210303
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU1495303
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU1495304
NA
ASD
NA
NA
51040002
51366958
326957
GRCh38
Deletion
Yes
gorker_18_ASD_discovery_cases-case23
10 yrs.
F
ASD
ASD
50909933
51087292
177360
GRCh38
Deletion
No
gorker_18_ASD_discovery_cases-case45
3 yrs.
F
ASD
ASD
50856272
50895012
38741
GRCh38
Deletion
No
gregor_21_DD/ID/EP_discovery_cases-case20
11 yrs. 2 mos.
F
Developmental delay, intellectual disability, and seizures
Developmental milestones: delayed ability to walk (21 months), delayed speech (first words at 21 months). Motor and musculoskeletal evaluation: hypotonia, broad hands and feet, habital subluxation of the patella. Epilepsy/seizures: absence seizures and abnormal EEG in infancy (since resolved). Additional medical history: hypermetropia, vesico-renal reflux (resolved. Dysmorphic features: broad nose, prominent columella, smooth philtrum, small upper lip, tooth and jaw malposition.
Mild intellectual disability (IQ 52)
47832348
47839769
7422
GRCh38
Deletion
Yes
gregor_21_DD/ID/EP_discovery_cases-case21
3 yrs. 10 mos.
M
Developmental delay
Developmental milestones: developmental delay, delayed ability to walk (23 months), delayed speech. Motor and musculoskeletal evaluation: hypotonia, clinodactyly of the fifth digits, large hands. Additional medical history: pyloric stenosis. Dysmorphic features: epicanthus, telecanthus, full lips, large mouth, large ears.
47833203
47903240
70038
GRCh38
Deletion
Yes
gregor_21_DD/ID/EP_discovery_cases-case22
11 yrs. 6 mos.
M
Developmental delay and intellectual disability
Developmental milestones: delayed ability to walk (17 months), speech delay (first words at 3 years, reduced vocabulary at 11.5 years). Motor and musculoskeletal evaluation: broad hands and feet, broad and short thumbs, big toes, hallux valgus. Behavioral/psychiatric evaluation: lack of distance, ADHS, poor sense of danger, aggressive behavior, hyperphagia. EEG: abnormal. Additional medical history: borreliosis with reversible facial palsy at 8 years, enuresis nocturna. Dysmorphic features: prominent eyebrows, long palpebral fissures, periorbital fullness, broad nasal tip, flat philtrum, thin upper lip vermillion.
Moderate intellectual disability (IQ 50)
47783233
47839769
56537
GRCh38
Deletion
No
gregor_21_DD/ID/EP_discovery_cases-case23
17 yrs.
M
Developmental delay and intellectual disability
Developmental milestones: delayed ability to walk (2 years), delayed speech (first words at 3-4 years). Motor and musculoskeletal evaluation: partial cutaneous 2-3 toe syndactyly, cavus foot deformity, ankle hypermobility. Additional medical history: glue ears until 4 years of age, isolated right inferior iris atrophy. Dysmorphic features: large and simple ears, unusual discoloration of the left iris.
Mild intellectual disability (IQ 62)
47806501
47902810
96310
GRCh38
Deletion
No
guilmatre_09_ASD_discovery_cases-case45431
10
M
ASD
NA
IQ NA
51006556
51114057
107000
Unknown
Deletion
Yes
guilmatre_09_ASD_discovery_cases-caseT35
38
F
ASD
NA
IQ 66
51006556
51114057
<427000
Unknown
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case15D827
8 mos. 6 days
M
Developmental delay/Intellectual disability
50775790
50831233
55444
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case17D759
6 yrs.
F
Developmental delay
50624431
50732090
107660
GRCh38
Deletion
No
holmquist_14_ID_discovery_cases-case1
4 yrs.
M
Intellectual disability
Birth/neonatal history: born at gestational week 34 + 4 days by emergency C-section due to threatening asphyxia (Apgar scores of 3, 6, and 8 at 1, 5, and 10 min); birth weight of 2458 g; transferred to NICU due to prematurity and transient tachypnea; developed prolonged hypoglycemia , sustained elevated base deficit, elevated TSH, and low ionized calcium (treated with sodium bicarbonate, thyroid hormone supplement, and calcium lactate). Developmental milestones: delayed motor development; no speech development; persistent failure to thrive; case requires liquidized food due to inability to feed himself. Language and communication evaluation: no speech, no social performance; mostly silent, but sometimes presents monotonic noises. Motor and musculoskeletal evaluation: very slow motor development; unable to walk, but can sit and roll from place to place; able to grab and hold onto things. Behavioral/psychiatric evaluation: prefers to sit in wheelchair with limited facial or slightly anxious expression; easily upset or frightened, high-pitched cry, tremor, body rocking, head banging, stereotypic hand and arm movements. Epilepsy/seizures: none. EEG: normal. Brain imaging: slight thinning of cerebral white matter, periventricular high T2 signals, and expanded Virchow-Robin spaces on brain MRI. Additional medical history: bilateral inguinal hernias and bilateral undescended testis (both surgically repaired). Dysmorphic features: high-arched palate, medial strabismus on right eye, low-set and large ears with soft cartilage, beaked nose, micrognathia, puffy hands and feet, thick and elastic skin, palmar crease in right hand. Growth parameters: microcephaly [head circumference of 46 cm (-4 SD) at age of 4 years]; weight of 13.5 kg (-2 SD) and height of 96 cm (-2 SD). Family history: fifth child of consanguineous Middle-Eastern parents who are first cousins; both parents (heterozygous for deletion), three older sisters (all of whom were heterozygous for deletion), and a brother (deletion absent) are all healthy and without symptoms.
Severe intellectual disability
50644687
50809787
165101
GRCh38
Homozygous deletion
Yes
husson_20_ASD_discovery_cases-case304
6 yrs.
M
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
51026370
51032536
6167
GRCh38
Deletion
Yes
husson_20_ASD_discovery_cases-case318
12 yrs.
M
ASD
Diagnosis of Asperger syndrome
51026370
51032536
6167
GRCh38
Deletion
Yes
husson_20_ASD_discovery_cases-case396
7 yrs.
M
ASD and intellectual disability
Diagnosis of ASD
Intellectual disability
51026370
51032536
6167
GRCh38
Deletion
Yes
imitola_14_ASD/ID/EP_discovery_cases-case1
7 yrs.
M
Pitt-Hopkins-like syndrome 2
Birth/neonatal history: born at full term with no medical issues. Developmental milestones: severely delayed motor skills (sat up at 1 year and walked at 2 years) and language skills; also developed clinical features compatible with diagnosis of autistic disorder. Language and communication evaluation: approximately 2-10 words. Behavioral/psychiatric evaluation: outbursts of aggressiveness and self-injurious behavior; stereotypies; behavioral problems treated with risperidone and extended-release guanfacine, in addition to behavioral therapy, with little benefit. Sleep disturbances: abnormal sleep-wake cycle. Epilepsy/seizures: episodes of staring and stiffening at age of 7 years; atypical absence seizures consistent with generalized epilepsy; seizures treated with topiramate and sodium valproate (resulted in reduced frequency of seizures). EEG: generalized paroxysmal spike wave at onset of staring spell followed by high-amplitude rhyhtmic 2-Hz notched delta activity with duration of 40-60 seconds. Other features: ventricular septal defect; dysphagia; constipation. Growth parameters: height 5th %ile, weight 10th %ile, head circumference 25th-50th %ile. Family history: similarly affected fraternal twin sister; born to healthy, non-consanguineous parents; no family history of developmental delay or cognitive deficits, seizures, autism, or mental health problems.
Severe developmental delay; severe cognitive deficits
50957591
51092312
134722
GRCh38
Deletion
Yes
imitola_14_ASD/ID/EP_discovery_cases-case1
7 yrs.
M
Pitt-Hopkins-like syndrome 2
Birth/neonatal history: born at full term with no medical issues. Developmental milestones: severely delayed motor skills (sat up at 1 year and walked at 2 years) and language skills; also developed clinical features compatible with diagnosis of autistic disorder. Language and communication evaluation: approximately 2-10 words. Behavioral/psychiatric evaluation: outbursts of aggressiveness and self-injurious behavior; stereotypies; behavioral problems treated with risperidone and extended-release guanfacine, in addition to behavioral therapy, with little benefit. Sleep disturbances: abnormal sleep-wake cycle. Epilepsy/seizures: episodes of staring and stiffening at age of 7 years; atypical absence seizures consistent with generalized epilepsy; seizures treated with topiramate and sodium valproate (resulted in reduced frequency of seizures). EEG: generalized paroxysmal spike wave at onset of staring spell followed by high-amplitude rhyhtmic 2-Hz notched delta activity with duration of 40-60 seconds. Other features: ventricular septal defect; dysphagia; constipation. Growth parameters: height 5th %ile, weight 10th %ile, head circumference 25th-50th %ile. Family history: similarly affected fraternal twin sister; born to healthy, non-consanguineous parents; no family history of developmental delay or cognitive deficits, seizures, autism, or mental health problems.
Severe developmental delay; severe cognitive deficits
N/A
N/A
272000
GRCh37
Deletion
Yes
imitola_14_ASD/ID/EP_discovery_cases-case2
7 yrs.
F
Pitt-Hopkins-like syndrome 2
Birth/neonatal history: born at full term with no medical issues. Developmental milestones: showed inability to play and interacted with others at 6 months of age; later diagnosed with severe developmental delay and language impairment. Language and communication evaluation: some vocalizations; language limited to 2-5 words. Motor and musculoskeletal evaluation: strabismus; hypotonia; ataxia. Behavioral/psychiatric evaluation: stereotypies; aggressive behavior; temper tantrums; treated with sodium valproate, risperidone, and extended-release guanfacine for behavioral symptoms. Epilepsy/seizures: none reported. EEG: normal. Sleep disturbances: abnormal sleep-wake cycle. Other features: hyperventilation, constipation. Growth parameters: height 5th %ile, weight 10th %ile, head circumference <5th %ile (microcephaly). Family history: similarly affected fraternal twin brother; born to healthy, non-consanguineous parents; no family history of developmental delay or cognitive deficits, seizures, autism, or mental health problems.
Severe developmental delay; severe cognitive deficits
50927858
51101658
173801
GRCh38
Deletion
Yes
imitola_14_ASD/ID/EP_discovery_cases-case2
7 yrs.
F
Pitt-Hopkins-like syndrome 2
Birth/neonatal history: born at full term with no medical issues. Developmental milestones: showed inability to play and interacted with others at 6 months of age; later diagnosed with severe developmental delay and language impairment. Language and communication evaluation: some vocalizations; language limited to 2-5 words. Motor and musculoskeletal evaluation: strabismus; hypotonia; ataxia. Behavioral/psychiatric evaluation: stereotypies; aggressive behavior; temper tantrums; treated with sodium valproate, risperidone, and extended-release guanfacine for behavioral symptoms. Epilepsy/seizures: none reported. EEG: normal. Sleep disturbances: abnormal sleep-wake cycle. Other features: hyperventilation, constipation. Growth parameters: height 5th %ile, weight 10th %ile, head circumference <5th %ile (microcephaly). Family history: similarly affected fraternal twin brother; born to healthy, non-consanguineous parents; no family history of developmental delay or cognitive deficits, seizures, autism, or mental health problems.
Severe developmental delay; severe cognitive deficits
N/A
N/A
282000
GRCh37
Deletion
Yes
itsara_10_ASD_discovery_cases-HI3024
NA
NA
Autism
NA
NA
50831607
50893743
62137
GRCh38
Deletion
Yes
kalsner_17_ASD_discovery_cases-case4
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
50619962
50985445
365484
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001182
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47832570
48405178
572609
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001208
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50856272
51155734
299463
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001577
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50448670
50909614
460945
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001843
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50488123
50945044
456922
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002154
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50851255
50995129
143875
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002228
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50737710
51173556
435847
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50485201
50531213
46013
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003845
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50710306
51087292
376987
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003898
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50548752
50755034
206283
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003989
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50665709
50755034
89326
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004219
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51087233
51329577
242345
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004576
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51065432
51244648
179217
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005013
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50710306
50999091
288786
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12232.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
50921824
50925998
4175
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13962.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
50620021
51028273
408253
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14443.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
50921524
51026469
104946
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0617
44 yrs.
M
ASD
Language and communication evaluation: poor language pragmatics. Family history: positive for ASD.
IQ > 70
50496341
51317388
821048
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0821
14 yrs.
F
ASD, OCD, ID
Behavioral/psychiatric evaluation: sensory hypersensitivity, OCD, psychiatric symptoms (delusions). Family history: negative.
Mild intellectual disability
51001206
51200739
199534
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ0902
69 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 28 years of age (core symptoms include delusions, cognitive impairment). Family history: negative.
IQ > 70
50721552
50944617
223066
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2116
26 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
50836961
51084060
247100
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2547
48 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
50975328
51121693
146366
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0617
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
50496340
51317388
821049
GRCh38
Deletion
Yes
kushima_22_ASD_discovery_cases-caseASD0821
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
51001205
51200739
199535
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1997
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
50008566
50572315
563750
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0902
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
50721551
50944617
223067
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2116
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
50836960
51084060
247101
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ2547
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
50975327
51121693
146367
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3283
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
50912850
50981984
69135
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400115
N/A
M
ASD
Diagnosis of atypical autism (ADOS=22). Motor and musculoskeletal evaluation: congenital torticollis. Additional medical history: dental caries.
Severe intellectual disability
50898487
51028289
129803
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11152.p1
NA
M
ASD
NA
NA
47600165
47615168
15004
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-12119.p1
NA
M
ASD
NA
NA
50603006
50646812
43807
GRCh38
Deletion
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
52524432
52554404
29973
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0063-003
NA
F
ASD
NA
NA
50641413
50720411
78999
GRCh38
Deletion
Yes
miyake_23_ASD_discovery_cases-case19022
NA
F
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
50738981
51028448
289468
GRCh38
Deletion
Yes
miyake_23_ASD_discovery_cases-case8546
NA
F
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
47795838
48733130
937293
GRCh38
Duplication
Yes
morrow_08_ASD_discovery_cases-case11101
NA
ASD
NA
NA
51079000
51315000
236300
Unknown
Deletion
No
munnich_19_ASD_discovery_cases-case3
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
50369978
50610356
240379
GRCh38
Deletion
Yes
munnich_19_ASD_discovery_cases-case4
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
50710306
51219735
509430
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-256-1
ASD
49063311
49111272
47962
Unknown
Deletion
No
ohashi_21_ASD_discovery_cases-caseASD-105
NA
F
ASD
Case diagnosed with ASD according to DSM-5 criteria
50741314
51155734
414421
GRCh38
Deletion
Yes
oikonomakis_16_ASD_discovery_cases-case324
6 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hyperactivity, isolated behavior
50770049
51019829
249781
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case88
4 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hypotonia, speech delay, behavioral problems
51009862
51087292
77431
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1206_5
NA
M
ASD
NA
NA
49486991
49541877
54887
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case13017_223
NA
F
Autism
Severe learning disability, nonverbal, no dysmorphic features or associated medical conditions
IQ<30
50459235
50649904
190670
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case13037_463
NA
M
Autism
No dysmorphic features
Mild MR
50921934
51077100
155167
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case13153_1703
NA
M
Autism
Verbal, Wilms tumor
Mild MR
50909664
51141401
231738
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14068_1180
NA
M
Autism
Neurodevelopmental delay with onset at 2 y (first words 9 m, first phrases 36 m, walked at 14 m), functional language; no dysmorphic features, no sleep problems, no epilepsy; brain MRI cortical atrophy
Normal IQ
50413185
50597193
184009
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5072_3
NA
M
ASD
No epilepsy, no dysmorphic features
Average IQ
50831607
50874445
42839
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5201_3
NA
F
ASD
NA
NA
52070754
52170379
99626
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5413_3
NA
M
ASD
NA
NA
50655015
50723855
68841
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case13216_2383
N/A
M
ASD
Autism on ADI-R and ADOS, no language delay, verbal, poor motor control, no dysmorphic features, no seizures. Family history: broader autism phenotype is absent in father but is present in mother; father VIQ 87, mother VIQ 91 (PPVT).
Borderline/low average IQ (PPVT-III VIQ 78, Leiter Brief PIQ 83)
50887566
51133529
245964
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case16074_1571042001
N/A
M
ASD
Autism, 3 words, lost language at age 2 with fever-induced seizures, tall, encopresis. Family history: father slow in school, mother unaffected; sibling with ADHD (not tested).
Moderate ID (Leiter Brief at 27 y: PIQ 42)
49957256
50326908
369653
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case17027_1
N/A
M
ASD
Autism (based on ADI-R and ADOS), language delay (first words 20 mo, first phrases 30 mo), walked at 15 mo, verbal; BMI 15.56, no dysmorphic features or other anomalies, normal neurological exam, no epilepsy. Family history: both parents unaffected; CNV also present in affected brother.
No ID (Raven NVIQ 87, PPVT VIQ 71); Vineland: Communication 101, Daily Living Skills 78, Socialization 64, Adaptive Behavior Composite 75
50995969
51066958
70990
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case122686L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
50722129
50730867
8739
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case137917
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
49642148
49687742
45595
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146446L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
50912678
50957509
44832
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case153190
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
50421422
50908253
486832
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case44307
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
48603879
48627903
24025
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47544L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
49725712
49806105
80394
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case49202
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
51285771
51338727
52957
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62249L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
50912678
50957509
44832
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case74431
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
49054978
49087192
32215
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case75420
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
48666046
48676536
10491
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case78391
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
50707592
50720618
13027
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case87396
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
52145058
52251700
106643
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case87396
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
50451929
50458853
6925
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-caseL384
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
51045326
51127104
81779
Unknown
Deletion
Yes
roberts_13_ASD/DD/ID_discovery_cases-ASDcase2
11 yrs.
F
ASD
Obesity, macrocephaly
50946801
51042766
95966
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1051-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
50878714
51171231
292518
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11074.p1
9.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 75; verbal IQ, 58
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
50941912
51011514
69603
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
49644192
49729547
85356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
51687171
51700904
13734
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11382.p1
6.4
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 70; verbal IQ, 94
50705804
50737969
32166
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11510.p1
8.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 81; verbal IQ, 103
50642321
50649904
7584
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11600.p1
14.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
51695645
51700576
4932
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11654.p1
8
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 41; verbal IQ, 47
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11901.p1
10.3
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
51489816
51534738
44923
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
50749347
50775468
26122
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
49777010
49796026
19017
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12058.p1
9.3
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
50554885
50594912
40028
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12087.p1
5.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 108
50874445
50880647
6203
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
50668475
50697220
28746
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
50604596
50645969
41374
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12144.p1
4.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 93; verbal IQ, 81
51545670
51554715
9046
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12232.p1
7.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 74; verbal IQ, 51
50921934
51010629
88696
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12340.p1
15.5
F
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 19
51689657
51702892
13236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
52179922
52360964
181043
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
51693721
51700576
6856
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12376.p1
12.2
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
51689657
51702892
13236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12444.p1
9.5
F
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
50271467
50286889
15423
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12462.p1
16.8
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 113; verbal IQ, 108
51693721
51700904
7184
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12477.p1
14.1
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 28; verbal IQ, 27
50670318
50723855
53538
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12480.p1
13.1
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 96
50953318
50983487
30170
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12541.p1
6.5
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 133; verbal IQ, 108
48811015
48829578
18564
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
48813864
48825154
11291
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12710.p1
4
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 81; verbal IQ, 105
50831607
50874445
42839
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
51461042
51479294
18253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12744.p1
4.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 49
51693721
51700576
6856
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12749.p1
7.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
50786509
50794350
7842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
50924881
51438543
513663
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12969.p1
12.2
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 78; verbal IQ, 70
49644192
49729547
85356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13079.p1
9.4
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
51693721
51700904
7184
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13085.p1
14.8
M
ASD
NA
Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
51693721
51702892
9172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13088.p1
6
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 91; verbal IQ, 67
49306359
49320416
14058
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13135.p1
15.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 90; verbal IQ, 69
51693721
51702892
9172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13218.p1
6.9
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
49630128
49634996
4869
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case2
1 mo.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
50682627
50743583
60957
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case8
6 yrs.
F
Developmental delay/intellectual disability and ASD
Developmental delay/intellectual disability, ASD
50659249
50720591
61343
GRCh38
Deletion
No
schaaf_12_ASD/DD/ID_discovery_cases-caseE1
16 days
F
Multiple congenital anomalies
Autism: No formal testing. ADHD: Unknown. Developmental milestones: sitting, 9 months; walking, N/A; first word, N/A. Seizures: None. EEG: None. Brain MRI: Frontal subdural hygroma, mild ventriculomegaly. Hypotonia: Present. Motor coordination defects: None. Congenital anomalies: Complex congenital heart defect (double outlet right ventricle, dextro-transposition of the great arteries). Dysmorphic features: Cupped ears, epicanthal folds, long palpebral fissures, flat nasal bridge. Growth parameters: weight (%ile), 15; length (%ile), 10; FOC (%ile), 5. Ethnicity: Hispanic. Vision: Normal. Hearing: Normal.
Unknown
51028303
51235754
207452
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE10
3 years
M
ASD + ADHD
Autism: ASD. ADHD: Yes. Developmental milestones: sitting, 8 months; walking, 14 months; first word, 18 months. Seizures: None. EEG: None. Brain MRI: Normal. Hypotonia: None. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 76; length (%ile), 86; FOC (%ile), 10. Ethnicity: Hispanic. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
Gross motor 79, fine motor 51, lang 72, social 49
50822001
50956073
134073
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE11
13 years
M
ASD
Autism: ASD. ADHD: No. Developmental milestones: sitting, Unknown; walking, 20 months; first word, 2 years. Seizures: Absence. EEG: N/A. Brain MRI: None. Hypotonia: None. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 20; length (%ile), 25; FOC (%ile), >98. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
No formal testing, but requires special education.
50465243
50842194
376952
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE12
16 years
M
ASD
Autism: ASD. ADHD: No. Developmental milestones: sitting, Unknown; walking, 14 months; first word, 12 months. Seizures: Generalized tonic-clonic seizures. EEG: Right frontal spike activity. Brain MRI: Normal. Hypotonia: None. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 50; length (%ile), 25; FOC (%ile), 98. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
Mild to moderate ID (clinical impression)
50465243
50842194
376952
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE13
5 years
M
ADHD
Autism: No. ADHD: Yes. Developmental milestones: sitting, 10 months; walking, 16 months; first word, 18 months. Seizures: Generalized tonic-clonic seizures. EEG: Bifrontal and central spike and wave. Brain MRI: Normal. Hypotonia: None. Motor coordination defects: Present. Congenital anomalies: None. Dysmorphic features: Epicanthal folds. Growth parameters: weight (%ile), 35; length (%ile), 43; FOC (%ile), 52. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
Verbal 91, spatial 61, nonverbal 60
50465243
50472248
7006
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE14
5 years
F
Autistic disorder
Autism: Autistic disorder. ADHD: No. Developmental milestones: sitting, Unknown; walking, 12 months; first word, 6 months. Seizures: Absence. EEG: Normal. Brain MRI: Bilateral perisylvian pachgyria, symmetric white matter volume loss, thinning of corpus callosum. Hypotonia: None. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 46; length (%ile), 55; FOC (%ile), 92. Ethnicity: Ashkenazi Jewish. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
Gross motor 38, fine motor 89, receptive lang 38, expressive lang 53
50079492
50401277
321786
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE15
10 years
M
PDD-NOS + ADHD
Autism: PDD-NOS. ADHD: Yes. Developmental milestones: sitting, Unknown; walking, Unknown; first word, Unknown. Seizures: Absence, atonic drop attack. EEG: Frontocentral generalized spike and slow wave activity. Brain MRI: Normal. Hypotonia: Mild. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: Deep set eyes. Growth parameters: weight (%ile), 25; length (%ile), 25; FOC (%ile), 95. Ethnicity: Caucasian. Vision: Normal. Hearing: Mild hearing impairment. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
FS IQ 61, verbal 85, performance 57
49918460
50185051
266592
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE16
9 years
F
Autistic disorder
Autism: Autistic disorder. ADHD: No. Developmental milestones: sitting, 12 months; walking, 3 years; first word, 5 years. Seizures: Generalized tonic-clonic seizures. EEG: Poorly organized beta frequency, background with poor variability and reactivity. Brain MRI: Prominent Virchow-Robin spaces. Hypotonia: None. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 65; length (%ile), 50; FOC (%ile), >98. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
No formal testing, but requires special education.
49804652
49965761
161110
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE17
9 years
F
Autistic disorder
Autism: Autistic disorder. ADHD: No. Developmental milestones: sitting, 6 months; walking, 2 years; first word, 5 years. Seizures: Generalized tonic-clonic seizures. EEG: None. Brain MRI: focal areas of white matter hyperintensity, prominent Virchow-Robin spaces. Hypotonia: None. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 25; length (%ile), 10; FOC (%ile), >98. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
No formal testing, but requires special education.
49804652
49965761
161110
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE2
12 years
M
Sensory integration disorder + ADHD
Autism: Sensory integration disorder. ADHD: Yes. Developmental milestones: sitting, Unknown; walking, 10 months; first word, 18 months. Seizures: Absence. EEG: Normal. Brain MRI: Atrophic changes of hippocampus. Hypotonia: None. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: Deep set eyes. Growth parameters: weight (%ile), 35; length (%ile), 25; FOC (%ile), 65. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal.
Verbal IQ 116, performance IQ 116, FS IQ 116
51015433
51334627
319195
GRCh38
Deletion
No
schaaf_12_ASD/DD/ID_discovery_cases-caseE3
3 years
F
PDD-NOS
Autism: PDD-NOS. ADHD: No. Developmental milestones: sitting, Unknown; walking, 10 months; first word, 2 years. Seizures: None. EEG: None. Brain MRI: Minimal periventricular white matter changes. Hypotonia: Present. Motor coordination defects: Present. Congenital anomalies: None. Dysmorphic features: Low set ears, telecanthus, epicanthal folds. Growth parameters: weight (%ile), 45; length (%ile), 85; FOC (%ile), 60. Ethnicity: Hispanic. Vision: Normal. Hearing: Normal.
Physical profile: delayed. Adaptive behavior profile: below average. Social/emotional profile: delayed. Cognitive profile: delayed. Communication profile: delayed.
50975994
51087292
111299
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE4
6 years
M
ASD
Autism: ASD. ADHD: No. Developmental milestones: sitting, 6 months; walking, 13 months; first word, 18 months. Seizures: None. EEG: None. Brain MRI: Normal. Hypotonia: Mild. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: Mild hypertelorism. Growth parameters: weight (%ile), 65; length (%ile), 50; FOC (%ile), 25. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal. Family history: father carrying NRXN1 deletion had no history of neuropsychiatric phenotypes and no history of cognitive impairment or learning deficits.
Unknown.
50956012
51045128
89117
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE5
7 years
M
ADHD + autistic features
Autism: Autistic features. ADHD: Yes. Developmental milestones: sitting, 8 months; walking, 16 months; first word, 12 months. Seizures: None. EEG: None. Brain MRI: None. Hypotonia: Present. Motor coordination defects: Present. Congenital anomalies: None. Dysmorphic features: Epicanthal folds, upslanting palpebral fissures, anteverted nares. Growth parameters: weight (%ile), 50; length (%ile), 50; FOC (%ile), 50. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
ID (clinical impression)
50925580
51087290
161711
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE6
2 months
F
Hypotonia
Autism: N/A. ADHD: N/A. Developmental milestones: sitting, N/A; walking, N/A; first word, N/A. Seizures: None. EEG: None. Brain MRI: Normal. Hypotonia: Present. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 10; length (%ile), 20; FOC (%ile), 75. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal.
Unknown
50741315
51087292
345978
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE7
2.5 years
M
Autistic features
Autism: Autistic features. ADHD: No. Developmental milestones: sitting, 9 months; walking, 18 months; first word, 12 months. Seizures: None. EEG: None. Brain MRI: None. Hypotonia: Present. Motor coordination defects: None. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), <1; length (%ile), 2; FOC (%ile), 53. Ethnicity: Caucasian/Hispanic. Vision: Normal. Hearing: Normal. Family history: parent from whom NRXN1 deletion was inherited has a history of learning problems and/or neuropsychiatric disease.
Cogn 85, motor 76, lang 62
50811956
51045128
233173
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE8
5 years
M
PDD-NOS + ADHD
Autism: PDD-NOS. ADHD: Yes. Developmental milestones: sitting, 8 months; walking, 18 months; first word, 2 years. Seizures: Generalized tonic-clonic seizures during infancy. EEG: Normal. Brain MRI: Normal. Hypotonia: None. Motor coordination defects: Present. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 15; length (%ile), 12; FOC (%ile), 5. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal.
No formal testing, but requires special education.
50936399
51226718
290320
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseE9
10 years
M
ADHD
Autism: No. ADHD: Yes. Developmental milestones: sitting, 18 months; walking, 2 years; first word, 2 years. Seizures: None. EEG: Suggestive of global brain dysfunction. Brain MRI: Normal. Hypotonia: Present. Motor coordination defects: None. Congenital anomalies: Pulmonary hypoplasia, omphalpcele, bilateral club feet, scoliosis. Dysmorphic features: Low set, posteriorly rotated ears, bushy, arched eyebrows, wide mouth, might arached palate, dental crowding. Growth parameters: weight (%ile), <3; length (%ile), 3; FOC (%ile), 5. Ethnicity: Hispanic. Vision: Normal. Hearing: Normal.
Moderate ID, adaptive behavior score 58
50672366
51585387
913022
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseI1
6 years
F
Autism
Autism: Yes. ADHD: No. Developmental milestones: sitting, 26 mo; walking, 4 yo; first word, 4 yo. Seizures: None. EEG: Nl. Brain MRI: Mild prominence of CSF spaces and subcortical hypomyelination. Hypotonia: Present. Motor coordination defects: Present . Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 61; length (%ile), 42; FOC (%ile), <2. Ethnicity: Caucasian. Vision: Normal. Hearing: Mild conductive hearing loss.
Gross motor 31, fine motor 26, visual reception 22, receptive language 22, expressive language 26
50995992
51015838
19847
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseI2
12 months
M
Multiple congenital anomalies
Autism: No. ADHD: N/A. Developmental milestones: sitting, 8 mo; walking, 12 mo; first word, 12 mo. Seizures: None. EEG: None. Brain MRI: Microcephaly, thin corpus callosum. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: Secundum ASD. Dysmorphic features: Low set, posteriorly rotated ears, epicanthal folds, depressed nasal bridge. Growth parameters: weight (%ile), <1; length (%ile), 6; FOC (%ile), <1. Ethnicity: Asian. Vision: Normal. Hearing: Normal.
Unknown
50681321
50801993
120673
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseI3
16 months
M
Developmental delay
Autism: No. ADHD: N/A. Developmental milestones: sitting, N/A; walking, N/A; first word, N/A. Seizures: None. EEG: None. Brain MRI: Mild left cystic periventricular leukomalacia. Hypotonia: Present. Motor coordination defects: none. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 4; length (%ile), 5; FOC (%ile), 8. Ethnicity: Hispanic. Vision: Normal. Hearing: Normal.
Profound developmental delay (clinical impression)
50741315
50791944
50630
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseI4
6 years
M
PDD-NOS
Autism: PDD-NOS. ADHD: Yes. Developmental milestones: sitting, 6 mo; walking, 12 mo; first word, 7 mo. Seizures: None. EEG: None. Brain MRI: None. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: None. Dysmorphic features: Mild slanting of the palpebral fissures, broad nasal tip, smooth philtrum. Growth parameters: weight (%ile), 75; length (%ile), 50; FOC (%ile), 50. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal.
FS IQ 88, verbal 95, performance 84
50661288
50721623
60336
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseI5
10 years
F
Autistic features
Autism: Autistic features. ADHD: No. Developmental milestones: sitting, 18 mo; walking, 8 yo; first word, 4 yo. Seizures: GTCS, absence. EEG: Background activity diffusely sow, ; FOCal spike and wave activity. Brain MRI: Megacisterna magna, periventricular leukoencephalo-pathy. Hypotonia: none. Motor coordination defects: Present. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), <3; length (%ile), <3; FOC (%ile), <3. Ethnicity: Caucasian. Vision: Normal. Hearing: Normal.
Severe ID (clinical impression)
50731507
50852148
120642
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseI6
16 years
M
Schizophrenia
Autism: Initially diagnosed with ASD, then diagnosis emerged to schizophrenia. ADHD: No. Developmental milestones: sitting, Unkn; walking, 15 mo; first word, 21 mo. Seizures: GTCS. EEG: Nl. Brain MRI: None. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: None. Dysmorphic features: None. Growth parameters: weight (%ile), 99; length (%ile), 80; FOC (%ile), 50. Ethnicity: Caucasian. Vision: Esotropia, wears corrective glasses for unknown reason. Hearing: Normal.
No formal testing, but requires special education.
50801932
50852148
50217
GRCh38
Deletion
Yes
schaaf_12_ASD/DD/ID_discovery_cases-caseI7
30 years
M
Obsessive-compulsive behaviors
Autism: No, but profound obsessive-compulsive behaviors. ADHD: No. Developmental milestones: sitting, Unkn; walking, Unkn; first word, Unkn. Seizures: None. EEG: Nl. Brain MRI: Nl. Hypotonia: none. Motor coordination defects: none. Congenital anomalies: None. Dysmorphic features: Deep set eyes. Growth parameters: weight (%ile), 35; length (%ile), 70; FOC (%ile), 75. Ethnicity: Caucasian. Vision: Myopia, several retinal detachments, cataract. Hearing: Normal.
Learning problems in school, but overall normal intellectual function. No formal testing.
50681321
50721623
40303
GRCh38
Deletion
Yes
shen_10_ASD_discovery_cases-ASD-09-028
NA
M
ASD
NA
NA
51155675
51264279
108605
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-029
NA
M
PDD-NOS
NA
NA
50633655
50772687
139033
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-030
NA
M
ASD
NA
NA
51009862
51131743
121882
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseLAS17
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
50938868
51075530
136663
GRCh38
Deletion
No
soysal_11_ASD_discovery_cases-case1
12
F
ASD
Ascertained for ASD (criteria/testing unknown). History as child: starting to walk without support at 16 mo., speaking at 1 yr, using sentences at 3 yr., diffculty in toilet training. Able to follow normal school without aid. Attention deficit disorder noted by teachers. Normal EEG. Mild facial dysmorphism (microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, myope, mild inner epicanthal folds, arched eyebrows, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement). Phalangeal deformity in distal phalanges of hands. 5th finger camptodactyly. Brachydactyly of the feet. Hypotonia. History of joint hypermobility. Scoliosis. Growth parameters (12 yrs): weight 43.5 kg (50-75 %ile), length 154 cm (50-75 %ile), OFC 53 cm.
Mild-moderate mental retardation. Total IQ = 45 (WISC-R)
50412234
50603279
191000
Unknown
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR049-C11-02C10134
NA
F
ASD
Developmental delays
NA
50291211
50646511
355301
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR049-C8-02C10130
NA
F
ASD
Developmental delays
NA
50291211
50646511
355301
GRCh38
Deletion
Yes
tammimies_15_ASD_discovery_cases-case3-0368-000
N/A
M
ASD
Small patent ductus arteriosus, nodular heterotopia of frontal lobe. Dysmorphic features: macrocephaly, frontal cowlick, long palpebral fissures, midface hypoplasia, wide mouth.
Normal intelligence (IQ of 98)
50341200
50830000
488801
GRCh38
Deletion
No
tuncay_23_ASD_discovery_cases-caseMCD-002-3
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
50270332
50287662
17331
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case76
M
DD/ID
Strabismus, epicanthal folds, low set ears, cryptorchid testes
48365327
48868965
503639
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case8
F
DD/ID
Hypotonia, speech delay, behavioral problems (autistic features)
51009862
51087292
77431
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case9
F
DD/ID
Hypotonia, speech delay, behavioral problems (autistic features)
50770049
51019829
249781
GRCh38
Deletion
No
utine_14_DD/ID/ASD_discovery_cases-case2
10 yrs.
M
Developmental delay, epilepsy and autism/autistic features
Birth/neonatal history: born at term with birth weight of 2900 g. Developmental milestones: early developmental delay; sat without support at 3 years of age, walked independently after 6 years of age, recognized mother at 9 years of age, had only two words at 10 years of age. Language and communication evaluation: able to understand some verbal commands but unable to speak any. Behavioral/psychiatric evaluation: autism/autistic features; normal sleeping habits and normal appetite, no other behavioral abnormalities. Epilepsy/seizures: intractable epilepsy; seizures controlled with sodium valproate and levetiracetam. Brain imaging: normal. Growth parameters: at or below 3rd %ile. Family history: born to consanguineous parents (first cousins) who were heterozygous for the deletion; deletion absent in patient's sister.
Severe DD/ID (main area of delay/disability: global)
N/A
N/A
130000
Unknown
Homozygous deletion
Yes
van_den_bossche_12_SCZ_discovery_cases-Das202
45
F
SCZ
Age of onset: 37. 2x postnatal depressive episodes, first psychosis also postpartum, heavy family burden for schizophrenia, chronic schizophrenia.
50795589
51158483
362895
GRCh38
Deletion
No
van_den_bossche_12_SCZ_discovery_cases-Sc1021
49
M
SCZ
Age of onset: 36.
50480397
51053481
573085
GRCh38
Duplication
No
van_den_bossche_12_SCZ_discovery_cases-Zas9031
35
F
SCZ and epilepsy and ID
Age of onset: 20. Also epilepsy.
Low IQ
51053164
51158483
105320
GRCh38
Deletion
No
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case1
21 yrs.
F
Bipolar disorder and intellectual disability
Diagnosis of bipolar disorder. Birth/neonatal history: uneventful pregnancy, born full-term with birth weight of 3640 g and length of 52 cm; no congenital abnormalities or feeding difficulties observed. Developmental milestones: started to walk at 14 months of age. Language and communication evaluation: difficulties in language acquisition; average language scores. Motor and musculoskeletal evaluation: dorsal kyphosis, long hand with slender and flexible fingers. Behavioral/psychiatric evaluation: behavioral profile characterized by inappropriate reactiond to frustration, which translated to refusal to follow directions, requests, or orders' performance on ADOS not indicative of ASD or autism. Epilepsy/seizures: febrile seizures until age of 2 years, childhood absence epilepsy from 5 to 7 years of age. Dysmorphic features: long face, deep set eyes, hypotelorism, low set ears, prominent premaxilla, high narrow palate, tooth malposition. Growth parameters: height 97th %ile, weight 97th %ile, OFC of 56.5 cm (+1 SD). Family history: only child of non-consanguineous parents with psychiatric and cognitive results within normal range.
Mild intellectual disability (IQ of 65); cognitive profile showed dysexecutive syndrome with particularly poor behavioral control, low tolerance to frustration, and difficulty in acquiring new information, both verbal and visual.
50433744
50851455
417712
GRCh38
Deletion
Yes
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case2
20 yrs.
M
ASD and intellectual disability
Diagnosis of atypical autism; performance on ADOS placed case within the ASD range. Birth/neonatal history: uneventful pregnancy, full-term and dystocic delivery; birth weight of 2790 g and OFC of 33.5 cm; no congenital abnormalities or feeding difficulties observed at birth. Motor and musculoskeletal evaluation: dorsal kyphosis, finger rigidity. Behavioral/psychiatric evaluation: nonspecified psychotic disorder with hypochondriac delusions; behavior inlcuded explosive temper tantrums, violence, and property destruction with a diagnosis of verbal and physically aggressive destructive behavior; also presented with obsessive-compulsive behavior. Dysmorphic features: long face, deep set eyes, hypotelorism, low set ears, prominent premaxilla, high palate. Growth parameters: height of 167 cm (3th-10th %ile), weight of 65.5 kg (25th %ile), and OFC of 54 cm (-1.5 SD). Family history: mother (positive for NRXN1 deletion) and brother (negative for NRXN1 deletion) with a history of behavioral disorders; mother also with a history of borderline IQ.
Mild intellectual disability (IQ of 62); neuropsychological tests showed complex cognitive profile, which included concretism and severe impairment of executive functioning, mainly in relation to working memory, difficulty in classifying information correctly, and deficit of abstract reasoning
50283464
50910133
626670
GRCh38
Deletion
Yes
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
11 yrs.
M
ADHD and intellectual disability
Diagnosis of attention deficit hyperactivity disorder (ADHD) at age of 9 years. Birth/neonatal history: during pregnancy, mother suffered hyperemesis gravidarum and had surgical intervention for sacral cyst and retroplacental hematoma; born full-term with birth weight of 2800 g and length of 50 cm; no congenital abnormalities observed at birth; had breastfeeding and artificial feeding difficulties and frequent vomiting. Developmental milestones: unable to chew, had not acquired any language, and presented severe sleep disturbances at age of 3 years. Language and communication evaluation: language impairment (both expression and comprehension). Behavioral/psychiatric evaluation: autistic traits with hyperactivity and challenging behavior; presented many fears, sleep disturbances, and looked very anxious. Dysmorphic features: mildly long face, deep set eyes, prominent premaxilla, long philtrum. Growth parameters: height 3rd %ile, weight 3rd %ile, OFC 3rd %ile. Family history: only child of non-consanguineous parents; family history of borderline IQ (dysexecutive pattern) and psychiatric disorder (anxiety) in mother and two maternal aunts; father required treatment for OCD and showed reduced verbal memory.
Mild intellectual disability (IQ of 53); neuropsychological profile characterized by language impairment (both expression and comprehension), poor working memory, and attention.
50813443
51330086
516644
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case1-0045-004
N/A
M
ASD
N/A
N/A
51325240
51444042
118803
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case1-0449-003
N/A
F
ASD
N/A
N/A
52156430
52173018
16589
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case1-0496-003
N/A
M
ASD
Family history: unaffected monozygotic twin sibling (also male). Karyotype: 46, XXY.
N/A
52139478
52157530
18053
GRCh38
Duplication
Yes
walker_13_ASD_discovery_cases-case8-14144-2420
N/A
M
ASD
N/A
N/A
51076772
51145209
68438
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-3394-003
N/A
M
ASD
N/A
N/A
51076772
51108720
31949
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-3394-003
N/A
M
ASD
N/A
N/A
51359255
51399041
39787
GRCh38
Deletion
Yes
wenger_16_22q11DS_discovery_cases-case4
N/A
N/A
22q11.2 deletion syndrome and ASD
N/A
N/A
20800
GRCh37
Deletion
No
werling_19_ASD_discovery_cases-caseA098
12 yrs.
M
ASD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.5); diagnosis confirmed using either ADOS or ADI-R (ADOS score 1; ADI-R A/B/C/D scores 11/7/3/4)
IQ score 112 (SON-R)
50568997
50819907
250911
GRCh38
Deletion
No
wintle_10_ASD_discovery_cases-AN14762
9
M
15q duplication
Unknown
50994438
51006897
12460
GRCh38
Deletion
No
wisniowiecka-kowalnik_10_ASD_discovery_cases-family1patientI-2
36 yrs.
F
ASD
Completion of ADI-R assessment confirmed diagnosis of ASD (Asperger syndrome). Birth/neonatal history: born prematurely at 32 weeks gestation with birth weight of 1.36 kg (10th %ile); transferred to NICU and required oxygen supplementation. Developmental milestones: received speech therapy, had trouble reading and focusing, attended regular school. Behavioral/psychiatric evaluation: history of anxiety and depression (hospitalized three times, treatment with antipsychotic and antianxiety medications), hospitalized at 12 years for anorexia. marginal memory, inattention, distractibility, problematic reality testing. Dysmorphic features: small thin face, high forehead, broad eyebrows, small palpebral fissures, mild epicanthal folds, prominent nasal root and bridge, wide nostrils, wide mouth, narrow pointed chin, prominent tragus on both ears. Family history: 2p16.3 deletion also identified in four children with autism, anxiety, developmental delay, and speech delay, but not in unaffected child; five first-trimester spontaneous abortions.
Low average cognitive ability
49953709
50332704
378996
GRCh38
Deletion
Yes
wisniowiecka-kowalnik_10_ASD_discovery_cases-family2patientII-1
4 yrs.
M
ASD
ADOS (3 years 11 months): Autism Spectrum Disorder range; ADI-R determined diagnosis of ASD. Birth/neonatal history: born at 36-week gestation by spontaneous vaginal delivery followed by uncomplicated neonatal course. Developmental milestones: underwent initial developmental evaluation at 3 years 4 months, at which time diagnosis of speech and language delay and PDD-NOS was made. Language and communication: expressive language and language processing delays. Dysmorphic features: prominent forehead, arched eyebrows, broad upturned nasal tip, generous mouth, small and pointed chin. Family history: younger brother with clinical presentation similar to proband (no expressive language at 18 months), but with no formal evaluation; mother with right-sided hearing loss, migraines, history of speech problems and difficulty with social situations (no psychological evaluation); father with no reported abnormalities.
Cognitive delays
49930845
50115104
184260
GRCh38
Duplication
Yes
wisniowiecka-kowalnik_10_ASD_discovery_cases-family3patientII-2
7 yrs. 5 mos.
F
ASD
Clinical diagnosis of PDD-NOS at 3 years of age. ADOS evaluation at 7 yrs 5 mos.: met diagnostic cutoffs for autism. ADI-R evaluation: did not meet diagnostic criteria for autism or ASD (unreliability of mother as informant may have affected the outcome of this measure). Birth/neonatal history: first live born child, product of uncomplicated pregnancy. Developmental milestones: continued progress in all areas (increased vocabulary and social interaction). Motor and musculoskeletal evaluation: slight truncal hypotonia. Dysmorphic features: prominent forehead, bitemporal narrowing, prominent midface hypoplasia with decreased intercanthal bilateral distance, mild epicanthal folds, flat nasal bridge, slightly large ears with unusual helix with decreased antihelix and smooth border with prominent helical curve, somewhat short neck, prominent gynecomastia with inverted nipples, some mild truncal obesity, very small hands and fingers with puffy dorsum of the hand, pes cavum with very prominent puffy dorsum of foot and short toes. Growth parameters: height, 78th %ile; weight, 90th %ile; head circumference of 51.5 cm (80th %ile). Family history: mother with reports of atypical behaviors (intermitting mouthing of objects and food-hoarding); father with dyslexia and multiple psychiatric issues; younger maternal half-brother with speech delay but normal gross motor development and no other major medical issues.
50025771
50356592
330822
GRCh38
Duplication
Yes
wolfe_16_ID_discovery_cases-DECIPHER327138
21 yrs.
F
Intellectual disability
Psychiatric history: personality disorder. Mini PAS-ADD evaluation: psychosis, unspecified disorder. BPI-S evaluation: at least weekly stereotyped behavior. Medical history: asthma. Dysmorphic features: abnormal facial shape, dental crowding. Growth parameters: height 169 cm, head circumference 55.9 cm. Ethnicity: white (British).
Moderate intellectual disability
50969050
51518394
549345
GRCh38
Deletion
Yes
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case9
NA (>13 yrs.)
M
Autism
NA
NA
50509241
50578337
69097
GRCh38
Deletion
No
yuen_16_ASD_discovery_cases-sample2-1343-003
N/A
N/A
ASD
Case met criteria for ASD based on ADI-R, ADOS, and clinical evaluation. CNV detected in this case was not present in DGV.
50663774
50703271
39498
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0303-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
50624862
50640862
16001
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case2-1428-003
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: ADHD, intellectual disability; sensory issues. Woodbury-Smith et al. NPJ Genomic Medicine 2017 further characterized this case [Language and communication evaluation: OWLS standard score of 50 (<0.1 %ile), Children's Communication Checklist GCC score of 30 (1st %ile), Peabody Picture Vocabulary Test score of 86 (9th %ile, aged 7:4). Growth parameters: macrocephaly (head circumference 57.9 cm); height of 166.5 cm, weight of 58.1 kg).]
Woodbury-Smith et al. NPJ Genomic Medicine 2017 further characterized this case [Intellectual disability (WPPSI-IIIF FSIQ 53, verbal IQ 56, nonverbal IQ 65); Vineland Adaptive Behavior Scales communication 3rd %ile, daily living 1st %ile, social <1st %ile).
50526863
50773362
246500
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1620-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
50934862
51054862
120001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1620-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: premature birth, weeks unknown (5 lb, 7 oz)
50934862
51054862
120001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-caseAU3985302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
50923820
51049409
125590
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case125087
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
50586206
50620962
34757
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14AG81
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): ASD traits
50748047
50982684
234638
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1428-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
50527349
50769041
241693
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1620-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
50936852
51058360
121509
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1620-004
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
50936097
51058360
122264
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case213684
N/A
F
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
50847741
51396573
548833
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case226749
N/A
M
Schizophrenia
Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
50954515
51143793
189279
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0062-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
50914433
51136717
222285
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0186-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
50759605
51417597
657993
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0237-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
50897920
51036011
138092
GRCh38
Deletion
Yes
zhang_23_ASD/DD/ID_discovery_cases-caseASD0060
2 yrs.
M
ASD, developmental delay, and intellectual disability
Case clincially diagnosed with ASD according to DSM-V criteria. Additional clinical features: language delay, sleep disorders, forehead protrusion. Family history: CNV inherited from normal parent.
Intellectual disability
50818896
51469484
650589
GRCh38
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-control10009
N/A
F
Control
Control
50794350
50846311
51962
GRCh38
Deletion
No
brandler_18_ASD_discovery_controls-controlSSC07057
N/A
M
Control
Control from SSC_phase1 cohort
50928135
51432922
504788
GRCh38
Deletion
Yes
coe_14_ASD/DD/ID_discovery_controls-control57
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control58
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control59
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control60
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control61
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control62
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control63
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control64
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
coe_14_ASD/DD/ID_discovery_controls-control65
N/A
N/A
Control
N/A
N/A
49919358
51029358
1110001
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018737_
N/A
N/A
Control
No previous psychiatric history
52602320
52667759
65440
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036023398_
N/A
N/A
Control
No previous psychiatric history
49649453
49904629
255177
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024347_
N/A
N/A
Control
No previous psychiatric history
51726852
51938860
212009
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB166299_1007854379
N/A
N/A
Control
No previous psychiatric history
52004395
52900408
896014
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB376454_1007872131
N/A
N/A
Control
No previous psychiatric history
49344809
49420887
76079
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB431683_1007874676
N/A
N/A
Control
No previous psychiatric history
50655015
50716390
61376
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB458104_1007875358
N/A
N/A
Control
No previous psychiatric history
52038543
52124384
85842
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
N/A
N/A
Control
No previous psychiatric history
50662821
50698772
35952
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
N/A
N/A
Control
No previous psychiatric history
52179922
52355628
175707
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
N/A
N/A
Control
No previous psychiatric history
52520616
52556534
35919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
N/A
N/A
Control
No previous psychiatric history
52602320
52666027
63708
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB639462_1007875232
N/A
N/A
Control
No previous psychiatric history
52345029
52440806
95778
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB644835_1007854719
N/A
N/A
Control
No previous psychiatric history
52366845
52419198
52354
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB662268_1007853570
N/A
N/A
Control
No previous psychiatric history
51926530
51988503
61974
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB746547_1007874360
N/A
N/A
Control
No previous psychiatric history
50758990
50860892
101903
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
N/A
N/A
Control
No previous psychiatric history
48779686
48851645
71960
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB835850_1007853672
N/A
N/A
Control
No previous psychiatric history
52179922
52355628
175707
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB918862_1007854693
N/A
N/A
Control
No previous psychiatric history
52520616
52562726
42111
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB923323_1007844723
N/A
N/A
Control
No previous psychiatric history
51141401
51244183
102783
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
N/A
N/A
Control
No previous psychiatric history
50831607
50878714
47108
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900184_900184
N/A
N/A
Control
No previous psychiatric history
50698772
50756048
57277
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900846_900846
N/A
N/A
Control
No previous psychiatric history
52510045
52620346
110302
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902520_902520
N/A
N/A
Control
No previous psychiatric history
49681013
49784683
103671
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902895_902895
N/A
N/A
Control
No previous psychiatric history
50749347
50983487
234141
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control34
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1302
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
49535856
49537795
1940
Unknown
Homozygous deletion
No
kanduri_15_ASD_discovery_controls-control_split1840
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
49533498
49537795
4298
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split426
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
51926599
51928042
1444
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split672
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
51909753
51926904
17152
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split797
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
51926599
51928042
1444
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split800
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
49533498
49537795
4298
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control14443.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
50921524
51026469
104946
GRCh38
Deletion
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1139
32 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
50875980
50964367
88388
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1139
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
50790429
50964367
173939
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C28078
Control
48895069
48909473
14405
Unknown
Deletion
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
51699323
51702892
3570
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11075.s1
9.9
M
Control (matched sibling)
NA
NA
51684441
51702892
18452
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
51699323
51702892
3570
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
49486991
49541877
54887
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11291.s1
13.6
F
Control (matched sibling)
NA
NA
51684441
51700904
16464
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11301.s1
7.2
F
Control (matched sibling)
NA
NA
48811015
48825154
14140
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11339.s1
11.2
M
Control (matched sibling)
NA
NA
49411983
49441835
29853
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
51699461
51702892
3432
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11453.s1
8.8
F
Control (matched sibling)
NA
NA
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
51695645
51700576
4932
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
47874445
47878317
3873
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11510.s1
6.8
F
Control (matched sibling)
NA
NA
50642321
50649904
7584
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11590.s1
7.9
F
Control (matched sibling)
NA
NA
52417759
52419198
1440
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
49306359
49310656
4298
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
52179922
52355628
175707
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
50749347
50775468
26122
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
51695429
51700904
5476
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12076.s1
6.2
M
Control (matched sibling)
NA
NA
49306359
49320416
14058
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12340.s1
10.3
F
Control (matched sibling)
NA
NA
51693721
51700576
6856
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
52179922
52372222
192301
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12370.s1
6.3
F
Control (matched sibling)
NA
NA
51689657
51700576
10920
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
51689657
51700904
11248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
50271467
50282833
11367
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12541.s1
8.3
M
Control (matched sibling)
NA
NA
48811015
48825154
14140
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
50983487
51020519
37033
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
50924881
51437755
512875
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12821.s1
9
F
Control (matched sibling)
NA
NA
52032073
52039236
7164
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
51689657
51702892
13236
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
51699461
51702892
3432
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
49306359
49310656
4298
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
agha_14_ID/EP_discovery_cases-caseIII:2
qPCR
Unknown
Multi-generational
Possibly segregated (some unaffected offspring not tested for deletion)
MTCO1P42,NRXN1
agha_14_ID/EP_discovery_cases-caseIV:5
qPCR
Possibly maternal
Maternal
Multi-generational
Possibly segregated (some unaffected siblings not tested for deletion)
MTCO1P42,NRXN1
agha_14_ID/EP_discovery_cases-caseIV:6
qPCR
Possibly maternal
Maternal
Multi-generational
Possibly segregated (some unaffected siblings not tested for deletion)
MTCO1P42,NRXN1
ahn_13_SCZ_discovery_cases-NSB_ID581
Unknown
Unknown
Unknown
NRXN1
akter_23_ASD/ADHD/DD/ID_discovery_cases-case51
Unknown
MIR8485,NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case1
Maternal
NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case2
Maternal
NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case3
Maternal
MTCO1P42,NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case4
Paternal
CRYGGP,CCDC12P1,ZNF863P,KNOP1P3,NRXN1
alfieri_20_ASD/DD/ID_discovery_cases-case5
De novo
MIR8485,NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case1
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Unknown
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case10
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
MIR8485,NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case11
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case12
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Unknown
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case13
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case14
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
Paternal
Multi-generational
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case15
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case16
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case17
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case18
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case19
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
Paternal
Multi-generational
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case2
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case20
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Unknown
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case21
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case22
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case23
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case24
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case25
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case26
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case27
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case28
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case29
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
Paternal
Multi-generational
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case3
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
Extended multiplex
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case30
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case31
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case32
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Unknown
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case33
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Paternal
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case34
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case4
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
Extended multiplex
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case5
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
Extended multiplex
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case6
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
MTCO1P42,NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case7
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
MTCO1P42,NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case8
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
De novo
NRXN1
al_shehhi_18_ASD/DD/ID_discovery_cases-case9
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
Maternal
Multi-generational
MIR8485,NRXN1
annunziata_21_ASD_discovery_cases-caseIB201
qPCR, FISH
Maternal
Simplex
RPL7P13,NRXN1
annunziata_21_ASD_discovery_cases-caseIB255
qPCR, FISH
Unknown
Unknown
NRXN1
annunziata_21_ASD_discovery_cases-caseIB270
qPCR, FISH
Maternal
Simplex
NRXN1
annunziata_21_ASD_discovery_cases-caseIB275
qPCR, FISH
Maternal
NRXN1
ben-david_11_ASD_discovery_cases-proband15
Unknown
Unknown
Unknown
NRXN1, FSHR
bena_13_ASD/DD/ID_discovery_cases-case1
FISH
De novo
Unknown
Possibly segregated
MTCO1P42,MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case10
MLPA
Possible de novo
Unknown
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case11
Unknown
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case12
MLPA
Paternal
Paternal
Unknown
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case13
Unknown
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case14
MLPA
Unknown (not maternal)
Multiplex
Possibly segregated
MTCO1P42,MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case15
MLPA
Unknown (not maternal)
Multiplex
Possibly segregated
MTCO1P42,MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case16
MLPA
Maternal
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case17
FISH
De novo
Unknown
Possibly segregated
MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case18
aCGH
Unknown (not maternal)
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case19
FISH
Inherited
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case19
FISH
Inherited
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case2
MLPA
Possible de novo
Unknown
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case20
FISH, MLPA
De novo
Unknown
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case21
aCGH
Maternal
Maternal
Unknown
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case22
Unknown
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case23
qPCR
Paternal
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case24
MLPA
Paternal
Paternal
Multiplex
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case25
MLPA
Paternal
Paternal
Multiplex
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case3
FISH and aCGH
De novo
Unknown
Possibly segregated
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case4
Array SNP
Unknown (not maternal)
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case5
qPCR
Maternal
Maternal
Unknown
Possibly segregated
MTCO1P42,MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case6
Unknown
Unknown
Unknown
NRXN1
bena_13_ASD/DD/ID_discovery_cases-case7
aCGH
Maternal
Maternal
Unknown
Possibly segregated
MTCO1P42,MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case8
Unknown
Unknown
Unknown
MIR8485,NRXN1
bena_13_ASD/DD/ID_discovery_cases-case9
Maternal
Maternal
Unknown
Unknown
NRXN1
benitez-burraco_23_DD/ID_discovery_cases-case1
Paternal
MIR8485,MTCO1P42,NRXN1
bermudez-wagner_13_DD_discovery_cases-case1
Possibly paternal
Paternal
Simplex
Unknown
NRXN1
brandler_16_ASD_discovery_cases_probandIII-2
PCR
Maternal
Multiplex
Not segregated
MIR8485,NRXN1
brandler_18_ASD_discovery_cases-caseREACH000322
PCR or SNP data validation
Maternal
MIR8485,NRXN1
brandler_18_ASD_discovery_cases-caseSSC07045
PCR or SNP data validation
Maternal
NRXN1
brandler_18_ASD_discovery_cases-caseSSC08567
PCR or SNP data validation
Paternal
NRXN1
brandler_18_ASD_replication_cases-case2-1428-003
No validation step reported
Paternal
MTCO1P42,MIR8485,NRXN1
brandler_18_ASD_replication_cases-case3-0207-000
No validation step reported
Paternal
NRXN1
brandler_18_ASD_replication_cases-case3-0368-000
No validation step reported
De novo
MTCO1P42,MIR8485,NRXN1
brandler_18_ASD_replication_cases-caseAU4145301
No validation step reported
Paternal
NRXN1
brandler_18_ASD_replication_cases-caseAU4145303
No validation step reported
Paternal
NRXN1
brandler_18_ASD_replication_cases-caseSSC12931
No validation step reported
Maternal
NRXN1
bremer_11_ASD_discovery_cases-case1
MLPA, FISH
Maternal
NA
NA
NRXN1
bremer_11_ASD_discovery_cases-case1
MLPA, FISH
Paternal
NA
NA
NRXN1
bucan_09_ASD_discovery_cases-patient10
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_discovery_cases-patient11
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_discovery_cases-patient7
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_discovery_cases-patient8
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_discovery_cases-patient9
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_replication_cases-patient3
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_replication_cases-patient4
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_replication_cases-patient5
qPCR
Unknown
NA
NA
NRXN1
bucan_09_ASD_replication_cases-patient6
qPCR
Unknown
NA
NA
NRXN1
cameli_21_ASD_discovery_cases-case1
qPCR
Maternal
Simplex
MIR8485,MTCO1P42,NRXN1
chan_22_ASD_discovery_cases-case3-0207-000
Paternal
NRXN1
chan_22_ASD_discovery_cases-case3-0368-000
RT-PCR, qPCR, or ddPCR
De novo
MIR8485,MTCO1P42,NRXN1
ching_10_ASD/DD/MR_discovery_cases-case10
PCR
De novo
Unknown
Unknown
MIR8485,NRXN1
ching_10_ASD/DD/MR_discovery_cases-case11
PCR
Maternal
Unknown
Unknown
MIR8485,NRXN1
ching_10_ASD/DD/MR_discovery_cases-case12
PCR
Maternal
Unknown
Unknown
MIR8485,NRXN1
ching_10_ASD/DD/MR_discovery_cases-case3
PCR
Paternal
Unknown
Unknown
NRXN1
ching_10_ASD/DD/MR_discovery_cases-case4
PCR
Paternal
Unknown
Unknown
NRXN1
ching_10_ASD/DD/MR_discovery_cases-case5
De novo
Unknown
Unknown
NRXN1
ching_10_ASD/DD/MR_discovery_cases-case6
PCR
Maternal
Unknown
Unknown
NRXN1
ching_10_ASD/DD/MR_discovery_cases-case7
PCR
Paternal
Unknown
Unknown
NRXN1
ching_10_ASD/DD/MR_discovery_cases-case8
PCR
De novo
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
ching_10_ASD/DD/MR_discovery_cases-case9
PCR
Unknown
Unknown
Unknown
MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case511
De novo
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case512
De novo
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case513
De novo
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case514
De novo
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case515
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case516
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case517
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case518
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case519
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case520
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case521
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case522
Inherited
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case523
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case524
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case525
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case526
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case527
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case528
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case529
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case530
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case531
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case532
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case533
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case534
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case535
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case536
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case537
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case538
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case539
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_cases-case540
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
cucinotta_23_ASD_discovery_cases-case103
De novo
NRXN1
cucinotta_23_ASD_discovery_cases-case245
De novo
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient10
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient11
FISH
Paternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient12
FISH
Maternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient13
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient14
FISH
Paternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient15
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient16
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient17
FISH
Unknown
Multiplex
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient18
FISH
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient19
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient20
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient21
FISH
Paternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient22
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient23
FISH
Paternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient24
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient25
FISH
De novo
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient26
FISH
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient27
FISH
Unknown
Unknown
Unknown
MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient28a
FISH
De novo
Multiplex
Segregated
MTCO1P42,MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient29
FISH
Maternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient30
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient31
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient32
FISH
Unknown
Unknown
Unknown
MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient33a
FISH
Unknown
Multiplex
Possible segregation
MTCO1P42,MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient33b
FISH
Unknown
Multiplex
Possible segregation
MTCO1P42,MIR8485,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient34a
FISH
Unknown
Multiplex
Possible segregation
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient34b
FISH
Unknown
Multiplex
Possible segregation
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient35
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient36
Paternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient37
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient4
FISH
Paternal
Unknown
Unknown
KNOP1P3,NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient5a
FISH
Maternal
Multiplex
Incomplete segregation
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient5b
FISH
Maternal
Multiplex
Incomplete segregation
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient6
FISH
Paternal
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient7
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient8
FISH
Unknown
Unknown
Unknown
NRXN1
dabell_13_ASD/DD/ID_discovery_cases-patient9
FISH
De novo
Unknown
Unknown
NRXN1
digregorio_17_DD/ID_discovery_cases-DECIPHER_300071
Paternal
digregorio_17_DD/ID_discovery_cases-DECIPHER_300160
Unknown
CTBP2P5,FSHR
duong_12_ASD_discovery_cases-proband
qPCR
Possibly maternal (mother displays sub-diagnostic autistic traits)
Maternal
Simplex for ASD, MR, and epilepsy; multiplex for psychiatric disorder (affected brother)
Segregated (for ASD, MR, and epilepsy)
MTCO1P42,MIR8485,NRXN1
engchuan_15_ASD_discovery_cases-case13017_223
De novo
MTCO1P42,NRXN1
engchuan_15_ASD_discovery_cases-case13037_463
De novo
NRXN1
engchuan_15_ASD_discovery_cases-case13153_1703
De novo
NRXN1
engchuan_15_ASD_discovery_cases-case13205_2303
Unknown
engchuan_15_ASD_discovery_cases-case13216_2383
De novo
NRXN1
engchuan_15_ASD_discovery_cases-case14024_490
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case14068_1180
De novo
MTCO1P42,NRXN1
engchuan_15_ASD_discovery_cases-case14072_1250
Unknown
engchuan_15_ASD_discovery_cases-case14144_2420
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case16074_1571042001
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case17027_1
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case17034_1
Unknown
engchuan_15_ASD_discovery_cases-case18121_302
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case20071_1335001
Unknown
engchuan_15_ASD_discovery_cases-case21052_1
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case2279_102
Unknown
CTBP2P5
engchuan_15_ASD_discovery_cases-case3320_3
Unknown
PPIAP62
engchuan_15_ASD_discovery_cases-case3394_3
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case3394_3
Unknown
engchuan_15_ASD_discovery_cases-case3473_3
Unknown
MIR8485,NRXN1
engchuan_15_ASD_discovery_cases-case3485_3
Unknown
MIR8485,NRXN1
engchuan_15_ASD_discovery_cases-case3513_3
Unknown
FTH1P6,MIR4431
engchuan_15_ASD_discovery_cases-case4193_1
Unknown
engchuan_15_ASD_discovery_cases-case4504_1
Unknown
MIR8485,NRXN1
engchuan_15_ASD_discovery_cases-case5072_3
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case5201_3
Unknown
ZNF863P
engchuan_15_ASD_discovery_cases-case5413_3
Unknown
MIR8485,NRXN1
engchuan_15_ASD_discovery_cases-case6125_4
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case6197_4
Unknown
NRXN1
engchuan_15_ASD_discovery_cases-case6278_3
Unknown
engchuan_15_ASD_discovery_cases-case6296_3
Unknown
engchuan_15_ASD_discovery_cases-case8502_201
Unknown
FTH1P6
fan_19_ASD_discovery_cases-caseASD287
Unknown
Unknown
Unknown
NRXN1
feliciano_19_ASD_discovery_cases-caseSP0001116
Paternal
NRXN1
null
feliciano_19_ASD_discovery_cases-caseSP0001151
Paternal
NRXN1
null
fitzgerald_14_ASD/DD/ID_discovery_cases-case000023
De novo
Unknown
Unknown
MSH6,FBXO11
gai_11_ASD_discovery_cases-AU1091304
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1091306
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1274302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1419302
Inherited
NRXN1 (intronic)
gai_11_ASD_discovery_cases-AU1419303
Inherited
NRXN1 (intronic)
gai_11_ASD_discovery_cases-AU1495303
Inherited
NRXN1
gai_11_ASD_discovery_cases-AU1495304
Inherited
NRXN1
gai_11_ASD_discovery_cases-AU1679302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1679303
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1764302
Inherited
NRXN1 (intronic)
gai_11_ASD_discovery_cases-AU1848302
Inherited
NRXN1 (intronic)
gai_11_ASD_replication_cases-AU019604
Inherited
0 genes
gai_11_ASD_replication_cases-AU041105
Inherited
NRXN1
gai_11_ASD_replication_cases-AU041106
Inherited
NRXN1
gai_11_ASD_replication_cases-AU054203
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-12232.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
NRXN1
girirajan_13a_ASD_discovery_cases-13580.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
NRXN1
girirajan_13a_ASD_discovery_cases-13609.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
NRXN1
girirajan_13a_ASD_discovery_cases-13962.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
MTCO1P42,MIR8485,NRXN1
girirajan_13a_ASD_discovery_cases-14443.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
NRXN1
girirajan_13a_ASD_discovery_cases-AU1495303
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
NRXN1
girirajan_13a_ASD_discovery_cases-AU2681301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
NRXN1
glessner_09_ASD_discovery_cases-1211_004
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_discovery_cases-15062_68740
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_discovery_cases-2367_004
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_discovery_cases-NIMH_157-1155-001_06C58406A
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_replication_cases-AU041105
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_replication_cases-AU041106
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_replication_cases-AU054203
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_replication_cases-AU1210303
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_replication_cases-AU1495303
qPCR
Unknown
Unknown
NA
NRXN1
glessner_09_ASD_replication_cases-AU1495304
qPCR
Unknown
Unknown
NA
NRXN1
gorker_18_ASD_discovery_cases-case23
Unknown
Unknown
Unknown
NRXN1
gorker_18_ASD_discovery_cases-case45
Unknown
Unknown
Unknown
NRXN1
gregor_21_DD/ID/EP_discovery_cases-case20
MLPA
De novo
FBXO11
gregor_21_DD/ID/EP_discovery_cases-case21
MLPA
De novo
FBXO11,RPS27AP7
gregor_21_DD/ID/EP_discovery_cases-case22
De novo
FBXO11,MSH6,RPL36AP15
gregor_21_DD/ID/EP_discovery_cases-case23
De novo
FBXO11,MSH6,RPS27AP7
guilmatre_09_ASD_discovery_cases-case45431
QMPSF, aCGH, or FISH
Maternal
NA
NA
NRXN1a exons 1-2
guilmatre_09_ASD_discovery_cases-caseT35
QMPSF, aCGH, or FISH
Paternal
NA
NA
NRXN1a exons 1-2
han_22_ASD/DD/ID_discovery_cases-case15D827
Unknown
NRXN1
han_22_ASD/DD/ID_discovery_cases-case17D759
Unknown
MIR8485,NRXN1
holmquist_14_ID_discovery_cases-case1
MLPA
Both parents
Simplex
Segregated
MIR8485,NRXN1
husson_20_ASD_discovery_cases-case304
WES
Paternal
Familial
Unknown
NRXN1
husson_20_ASD_discovery_cases-case318
ddPCR, QMPSF, or aCGH
Paternal
Simplex
Unknown
NRXN1
husson_20_ASD_discovery_cases-case396
WES
De novo
Simplex
Segregated
NRXN1
imitola_14_ASD/ID/EP_discovery_cases-case1
FISH
Unknown
Multiplex
Possibly segregated
NRXN1
imitola_14_ASD/ID/EP_discovery_cases-case1
FISH
Unknown
Multiplex
Possibly segregated
NRXN1 (promoter and exons 1-5 of a-NRXN1)
imitola_14_ASD/ID/EP_discovery_cases-case2
FISH
Unknown
Multiplex
Possibly segregated
NRXN1
imitola_14_ASD/ID/EP_discovery_cases-case2
FISH
Unknown
Multiplex
Possibly segregated
NRXN1 (promoter and exons 1-5 of a-NRXN1)
itsara_10_ASD_discovery_cases-HI3024
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
NRXN1
kalsner_17_ASD_discovery_cases-case4
Unknown
Unknown
Unknown
MIR8485,NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001182
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS27AP7,PPIAP62,RN7SKP224,RNU4-49P,FBXO11,FOXN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001208
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001577
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001843
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002154
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002228
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003845
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003898
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003989
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
MIR8485,NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004219
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004576
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NRXN1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005013
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NRXN1
krumm_15_ASD_discovery_cases-case12232.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NRXN1
krumm_15_ASD_discovery_cases-case13962.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MIR8485,NRXN1
krumm_15_ASD_discovery_cases-case14443.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
NRXN1
kushima_18_ASD_discovery_cases-caseASD0617
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
Not simplex
Unknown
MTCO1P42,MIR8485,NRXN1
kushima_18_ASD_discovery_cases-caseASD0821
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
Simplex
Unknown
NRXN1
kushima_18_SCZ_discovery_cases-caseSCZ0902
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
Simplex
Unknown
NRXN1
kushima_18_SCZ_discovery_cases-caseSCZ2116
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
Unknown
Unknown
NRXN1
kushima_18_SCZ_discovery_cases-caseSCZ2547
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
Unknown
Unknown
NRXN1
kushima_22_ASD_discovery_cases-caseASD0617
qRT-PCR
Unknown
MIR8485,MTCO1P42,NRXN1
kushima_22_ASD_discovery_cases-caseASD0821
qRT-PCR
Unknown
NRXN1
kushima_22_BPD_discovery_cases-caseBD1997
qRT-PCR
Unknown
NRXN1
kushima_22_SCZ_discovery_cases-caseSCZ0902
qRT-PCR
Unknown
NRXN1
kushima_22_SCZ_discovery_cases-caseSCZ2116
qRT-PCR
Unknown
NRXN1
kushima_22_SCZ_discovery_cases-caseSCZ2547
qRT-PCR
Unknown
NRXN1
kushima_22_SCZ_discovery_cases-caseSCZ3283
qRT-PCR
Unknown
NRXN1
leblond_19_ASD_discovery_cases-casePN400115
SnipPeep and XHMM plot visualizations
De novo
Simplex
Segregated
NRXN1
levy_11_ASD_discovery_cases-11152.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
MSH2
levy_11_ASD_discovery_cases-12119.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
NRXN1
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
marshall_08_ASD_discovery_cases-MM0063-003
qPCR, qmPCR
Unknown
NA
NA
MIR8485,NRXN1
miyake_23_ASD_discovery_cases-case19022
qPCR
De novo
NRXN1
miyake_23_ASD_discovery_cases-case8546
qPCR
De novo
FBXO11,PPP1R21,FOXN2,MSH6,STON1-GTF2A1L,RPS27AP7,LHCGR,VN1R18P,RPL36AP15,PPIAP62,TPT1P11,RNU6-282P,RNU4-49P,RN7SKP224,PPP1R21-DT,GTF2A1L,STON1
morrow_08_ASD_discovery_cases-case11101
Paternal
NA
NA
NRXN1
munnich_19_ASD_discovery_cases-case3
FISH
Unknown
MTCO1P42,NRXN1
munnich_19_ASD_discovery_cases-case4
FISH
Paternal
NRXN1
nord_11_ASD_discovery_cases-256-1
Paternal
FSHR
ohashi_21_ASD_discovery_cases-caseASD-105
WES
De novo
NRXN1
oikonomakis_16_ASD_discovery_cases-case324
Unknown
NRXN1
oikonomakis_16_ASD_discovery_cases-case88
Paternal
NRXN1
pinto_10_ASD_discovery_cases-case1206_5
Affy5.0
maternal
NA
NA
pinto_10_ASD_discovery_cases-case13017_223
qPCR-Denovo
De novo
N/A
NA
MTCO1P42,NRXN1
pinto_10_ASD_discovery_cases-case13037_463
qPCR-Denovo
De novo
N/A
NA
NRXN1
pinto_10_ASD_discovery_cases-case13153_1703
qPCR-Denovo
De novo
N/A
NA
NRXN1
pinto_10_ASD_discovery_cases-case14068_1180
qPCR-Denovo
De novo
N/A
NA
MTCO1P42,NRXN1
pinto_10_ASD_discovery_cases-case5072_3
qPCR-Maternal,Agilent1M
maternal
Multiplex
Segregated
NRXN1
pinto_10_ASD_discovery_cases-case5201_3
Agilent1M
paternal
NA
NA
ZNF863P
pinto_10_ASD_discovery_cases-case5413_3
Agilent1M
paternal
NA
NA
MIR8485,NRXN1
pinto_14_ASD_discovery_cases2-case13216_2383
qPCR
De novo
Unknown (possibly multi-generational; mother with broader autism phenotype)
Unknown (not tested)
NRXN1
pinto_14_ASD_discovery_cases2-case16074_1571042001
qPCR
Maternal
Simplex
Unknown (sibling with ADHD not tested)
NRXN1
pinto_14_ASD_discovery_cases2-case17027_1
qPCR
Paternal
Multiplex
Segregated (CNV also present in affected brother)
NRXN1
prasad_12_ASD_discovery_cases-case122686L
qPCR
Paternal
Unknown
Unknown
NRXN1
prasad_12_ASD_discovery_cases-case137917
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case146446L
Unknown
Unknown
Unknown
NRXN1
prasad_12_ASD_discovery_cases-case153190
Unknown
Unknown
Unknown
NRXN1
prasad_12_ASD_discovery_cases-case44307
Unknown
Unknown
Unknown
STON1-GTF2A1L,STON1
prasad_12_ASD_discovery_cases-case47544L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case49202
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case62249L
Unknown
Unknown
Unknown
NRXN1
prasad_12_ASD_discovery_cases-case74431
Unknown
Unknown
Unknown
FSHR
prasad_12_ASD_discovery_cases-case75420
qPCR
Maternal
Unknown
Unknown
STON1-GTF2A1L,STON1
prasad_12_ASD_discovery_cases-case78391
qPCR
Maternal
Unknown
Unknown
NRXN1
prasad_12_ASD_discovery_cases-case87396
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case87396
qPCR
Maternal
Unknown
Unknown
NRXN1
prasad_12_ASD_discovery_cases-caseL384
qPCR
Paternal
Unknown
Unknown
NRXN1
roberts_13_ASD/DD/ID_discovery_cases-ASDcase2
BACs aCGH or FISH
Paternal
Unknown
Unknown
NRXN1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1051-0
Not tested by qPCR
Unknown
Unknown
Unknown
NRXN1
sanders_11_ASD_discovery_cases-11074.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NRXN1
sanders_11_ASD_discovery_cases-11165.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11382.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NRXN1
sanders_11_ASD_discovery_cases-11510.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NRXN1
sanders_11_ASD_discovery_cases-11600.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11654.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11901.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11914.p1
Paternal
Simplex (trio)
NA
KNOP1P3
sanders_11_ASD_discovery_cases-11964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NRXN1
sanders_11_ASD_discovery_cases-12003.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12058.p1
Maternal
Simplex (trio)
NA
MTCO1P42,NRXN1
sanders_11_ASD_discovery_cases-12087.p1
Paternal
Simplex (trio)
NA
NRXN1
sanders_11_ASD_discovery_cases-12100.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR8485,NRXN1
sanders_11_ASD_discovery_cases-12119.p1
Unknown
Simplex (trio)
NA
NRXN1
sanders_11_ASD_discovery_cases-12144.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12232.p1
Maternal
Simplex (trio)
NA
NRXN1
sanders_11_ASD_discovery_cases-12340.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12376.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NRXN1
sanders_11_ASD_discovery_cases-12462.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12477.p1
Paternal
Simplex (trio)
NA
MIR8485,NRXN1
sanders_11_ASD_discovery_cases-12480.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NRXN1
sanders_11_ASD_discovery_cases-12541.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12603.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12651.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12710.p1
Maternal
Simplex (trio)
NA
NRXN1
sanders_11_ASD_discovery_cases-12723.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12744.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12749.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NRXN1
sanders_11_ASD_discovery_cases-12786.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NRXN1
sanders_11_ASD_discovery_cases-12969.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13079.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13085.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13088.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13135.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13218.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sansovic_17_DD/ID/ASD_discovery_cases-case2
Unknown
MIR8485,NRXN1
sansovic_17_DD/ID/ASD_discovery_cases-case8
Unknown
MIR8485,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE1
FISH
De novo
Unknown
Possibly segregated
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE10
FISH
Possibly maternal
Maternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE11
FISH
Possibly maternal
Maternal
Multiplex
Possibly segregated
MTCO1P42,MIR8485,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE12
FISH
Possibly maternal
Maternal
Multiplex
Possibly segregated
MTCO1P42,MIR8485,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE13
PCR and DNA sequencing
Possibly paternal
Paternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE14
FISH
Possibly maternal
Maternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE15
FISH
Possibly maternal
Maternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE16
FISH
Possibly paternal
Paternal
Multiplex
Possibly segregated
RPL7P13,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE17
FISH
Possibly paternal
Paternal
Multiplex
Possibly segregated
RPL7P13,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE2
Unknown
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE3
FISH
De novo
Unknown
Possibly segregated
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE4
FISH
Paternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE5
FISH
Possibly maternal
Maternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE6
FISH
De novo
Unknown
Possibly segregated
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE7
FISH
Possibly maternal
Maternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE8
FISH
Unknown
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseE9
FISH
Unknown
Unknown
Unknown
MIR8485,KNOP1P3,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseI1
PCR and DNA sequencing
Unknown (not maternal; father sperm donor)
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseI2
FISH
Maternal
Unknown
Unknown
MIR8485,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseI3
FISH
Paternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseI4
FISH
Paternal
Unknown
Unknown
MIR8485,NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseI5
FISH
Paternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseI6
Maternal CMA
Maternal
Unknown
Unknown
NRXN1
schaaf_12_ASD/DD/ID_discovery_cases-caseI7
Paternal CMA
Paternal
Unknown
Unknown
MIR8485,NRXN1
shen_10_ASD_discovery_cases-ASD-09-028
De novo
NA
NA
NRXN1
shen_10_ASD_discovery_cases-ASD-09-029
Unknown
NA
NA
MIR8485,NRXN1
shen_10_ASD_discovery_cases-ASD-09-030
Paternal
NA
NA
NRXN1
soueid_16_ASD_discovery_cases-caseLAS17
Paternal
Simplex
NRXN1
soysal_11_ASD_discovery_cases-case1
Unknown
Simplex
NA
NRXN1
szatmari_07_ASD_discovery_cases-NAAR049-C11-02C10134
qPCR, microsatellite analysis
Unknown
Multiplex
Segregated
MTCO1P42,NRXN1
szatmari_07_ASD_discovery_cases-NAAR049-C8-02C10130
qPCR, microsatellite analysis
Unknown
Multiplex
Segregated
MTCO1P42,NRXN1
tammimies_15_ASD_discovery_cases-case3-0368-000
De novo
Unknown
Possibly segregated
MTCO1P42,MIR8485,NRXN1
tuncay_23_ASD_discovery_cases-caseMCD-002-3
Unknown
NRXN1
tzetis_12_DD/ID_discovery_cases-case76
Paternal
Unknown
RNU6-282P,TPT1P11,ELOBP3,STON1,LHCGR,FOXN2,PPP1R21,STON1-GTF2A1L,GTF2A1L
tzetis_12_DD/ID_discovery_cases-case8
Paternal
Unknown
NRXN1
tzetis_12_DD/ID_discovery_cases-case9
Unknown
Unknown
NRXN1
utine_14_DD/ID/ASD_discovery_cases-case2
RT-PCR
Both parents
Simplex
Segregated
NRXN1
van_den_bossche_12_SCZ_discovery_cases-Das202
Unknown
Unknown
Unknown
NRXN1
van_den_bossche_12_SCZ_discovery_cases-Sc1021
Unknown
Unknown
Unknown
MTCO1P42,MIR8485,NRXN1
van_den_bossche_12_SCZ_discovery_cases-Zas9031
Unknown
Unknown
Unknown
NRXN1
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case1
MLPA
De novo
Simplex
Likely segregated
MTCO1P42,MIR8485,NRXN1
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case2
MLPA
Maternal
Maternal
Multi-generational
Incomplete segregation (deletion not present in affected brother)
MTCO1P42,MIR8485,NRXN1
vinas-jornet_14_ASD/ID/ADHD/BPD/EP_discovery_cases-case3
MLPA
Maternal
Maternal
Multi-generational
Incomplete segregation (deletion not present in father with history of OCD, but present in three affected family members)
NRXN1
walker_13_ASD_discovery_cases-case1-0045-004
Long-range PCR or qPCR
Maternal
Multiplex
Not segregated (deletion absent in affected sibling)
walker_13_ASD_discovery_cases-case1-0449-003
Long-range PCR or qPCR
Paternal
Simplex
Not segregated (deletion present in unaffected sibling)
walker_13_ASD_discovery_cases-case1-0496-003
Long-range PCR or qPCR
Paternal
Simplex
Not segregated (deletion present in unaffected sibling)
walker_13_ASD_discovery_cases-case8-14144-2420
Long-range PCR or qPCR
Unknown
Simplex
Unknown
NRXN1
walker_13_ASD_discovery_cases-case8-3394-003
Long-range PCR or qPCR
Unknown
Simplex
Unknown
NRXN1
walker_13_ASD_discovery_cases-case8-3394-003
Long-range PCR or qPCR
Unknown
Simplex
Unknown
wenger_16_22q11DS_discovery_cases-case4
Unknown
NRXN1
werling_19_ASD_discovery_cases-caseA098
Unknown
MTCO1P42,MIR8485,NRXN1
wintle_10_ASD_discovery_cases-AN14762
Unknown
Unknown
Unknown
NRXN1
wisniowiecka-kowalnik_10_ASD_discovery_cases-family1patientI-2
aCGH, FISH, long-range PCR
Unknown
Siblings: NA. Offspring: multiplex for ASD/DD.
Siblings: NA. Offspring: segregated.
NRXN1
wisniowiecka-kowalnik_10_ASD_discovery_cases-family2patientII-1
aCGH, long-range PCR
Possibly maternal
Maternal
Possibly multiplex
Possibly segregated
NRXN1
wisniowiecka-kowalnik_10_ASD_discovery_cases-family3patientII-2
aCGH, long-range PCR
Unknown (not maternal)
Simplex (for ASD)
Unknown
NRXN1
wolfe_16_ID_discovery_cases-DECIPHER327138
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
KNOP1P3,NRXN1
ye_12_ASD/BPD/MDD/SCZ_discovery_cases-case9
Unknown
Unknown
Unknown
NRXN1
yuen_16_ASD_discovery_cases-sample2-1343-003
qPCR and/or Sanger sequencing
De novo
Simplex
Segregated
MIR8485,NRXN1
yuen_17_ASD_discovery_cases-case1-0303-003
CNV not detected by WGS, identified via Agilent 1M
Maternal
Multiplex
Not segregated
NRXN1
yuen_17_ASD_discovery_cases-case2-1428-003
Affymetrix CytoScan HD
Paternal
Simplex
Not segregated (Woodbury-Smith et al., NPJ Genomic Medicine 2017 reported that this deletion was also observed in an unaffected sibling)
MTCO1P42,MIR8485,NRXN1
yuen_17_ASD_discovery_cases-case2-1620-003
Affymetrix CytoScan HD
Paternal
Multiplex
Possibly segregated
NRXN1
yuen_17_ASD_discovery_cases-case2-1620-004
Affymetrix CytoScan HD
Paternal
Multiplex
Possibly segregated
NRXN1
yuen_17_ASD_discovery_cases-caseAU3985302
Not available
Unknown
Multiplex
Unknown
NRXN1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case125087
RT-qPCR or WGS
Unknown
MTCO1P42,NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case14AG81
RT-qPCR or WGS
Unknown
NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1428-003
RT-qPCR or WGS
Paternal
MTCO1P42,MIR8485,NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1620-003
RT-qPCR or WGS
Paternal
NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1620-004
RT-qPCR or WGS
Paternal
NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case213684
RT-qPCR or WGS
Unknown
NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case226749
RT-qPCR or WGS
Unknown
NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case4-0062-003
RT-qPCR or WGS
Paternal
NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0186-003
RT-qPCR or WGS
Unknown
NRXN1
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0237-003
RT-qPCR or WGS
Unknown
NRXN1
null
zhang_23_ASD/DD/ID_discovery_cases-caseASD0060
qPCR
Paternal
NRXN1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10009
Unknown
NRXN1
brandler_18_ASD_discovery_controls-controlSSC07057
PCR or SNP data validation
Maternal
NRXN1
coe_14_ASD/DD/ID_discovery_controls-control57
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control58
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control59
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control60
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control61
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control62
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control63
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control64
Unknown
MTCO1P42,MIR8485,NRXN1
coe_14_ASD/DD/ID_discovery_controls-control65
Unknown
MTCO1P42,MIR8485,NRXN1
engchuan_15_ASD_discovery_controls-control110036018737_
Unknown
FTH1P6
engchuan_15_ASD_discovery_controls-control110036023398_
Unknown
RPL7P13
engchuan_15_ASD_discovery_controls-control110036024347_
Unknown
CRYGGP
engchuan_15_ASD_discovery_controls-controlB166299_1007854379
Unknown
ZNF863P,FTH1P6,MIR4431,LINC01867
engchuan_15_ASD_discovery_controls-controlB376454_1007872131
Unknown
engchuan_15_ASD_discovery_controls-controlB431683_1007874676
Unknown
MIR8485,NRXN1
engchuan_15_ASD_discovery_controls-controlB458104_1007875358
Unknown
ZNF863P
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
Unknown
MIR8485,NRXN1
engchuan_15_ASD_discovery_controls-controlB529429_1007872251
Unknown
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
Unknown
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
Unknown
FTH1P6
engchuan_15_ASD_discovery_controls-controlB639462_1007875232
Unknown
LINC01867
engchuan_15_ASD_discovery_controls-controlB644835_1007854719
Unknown
LINC01867
engchuan_15_ASD_discovery_controls-controlB662268_1007853570
Unknown
engchuan_15_ASD_discovery_controls-controlB746547_1007874360
Unknown
NRXN1
engchuan_15_ASD_discovery_controls-controlB787931_1007853911
Unknown
ELOBP3
engchuan_15_ASD_discovery_controls-controlB835850_1007853672
Unknown
engchuan_15_ASD_discovery_controls-controlB918862_1007854693
Unknown
engchuan_15_ASD_discovery_controls-controlB923323_1007844723
Unknown
NRXN1
engchuan_15_ASD_discovery_controls-controlB963921_1007872666
Unknown
NRXN1
engchuan_15_ASD_discovery_controls-controlHABC_900184_900184
Unknown
NRXN1
engchuan_15_ASD_discovery_controls-controlHABC_900846_900846
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902520_902520
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902895_902895
Unknown
NRXN1
girirajan_13a_ASD_discovery_controls2-control34
Unknown
NRXN1
kanduri_15_ASD_discovery_controls-control_split1302
Unknown
Intergenic CNV: nearest genes, FSHR(dist=154190),NRXN1(dist=607848)
kanduri_15_ASD_discovery_controls-control_split1840
Unknown
Intergenic CNV: nearest genes, FSHR(dist=151832),NRXN1(dist=607848)
kanduri_15_ASD_discovery_controls-control_split426
Unknown
Intergenic CNV: nearest genes, NRXN1(dist=666925),ASB3(dist=1969075)
kanduri_15_ASD_discovery_controls-control_split672
Unknown
Intergenic CNV: nearest genes, NRXN1(dist=650079),ASB3(dist=1970213)
kanduri_15_ASD_discovery_controls-control_split797
Unknown
Intergenic CNV: nearest genes, NRXN1(dist=666925),ASB3(dist=1969075)
kanduri_15_ASD_discovery_controls-control_split800
Unknown
Intergenic CNV: nearest genes, FSHR(dist=151832),NRXN1(dist=607848)
krumm_15_ASD_discovery_controls-control14443.s1
Omni2.5-4v1
Paternal
NRXN1
kushima_18_ASD/SCZ_discovery_controls-controlCON1139
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
NRXN1
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1139
qRT-PCR
Unknown
NRXN1
nord_11_ASD_discovery_controls-04C28078
0 genes
sanders_11_ASD_discovery_controls-11043.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11043.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11075.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11118.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11284.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11291.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11301.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11339.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11435.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11453.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11470.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11485.s1
Paternal
Simplex (quad)
NA
FBXO11
sanders_11_ASD_discovery_controls-11510.s1
Paternal
Simplex (quad)
NA
NRXN1
sanders_11_ASD_discovery_controls-11543.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11590.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11601.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11928.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11964.s1
Maternal
Simplex (quad)
NA
NRXN1
sanders_11_ASD_discovery_controls-11986.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12076.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12340.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12370.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12373.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12444.s1
Paternal
Simplex (quad)
NA
NRXN1
sanders_11_ASD_discovery_controls-12541.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
NRXN1
sanders_11_ASD_discovery_controls-12786.s1
Maternal
Simplex (quad)
NA
NRXN1
sanders_11_ASD_discovery_controls-12821.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12838.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13012.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13089.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available