Copy Number Variants / 2p16.3

2p16.3

Case population data
Control population data
Type
Deletion-Duplication
Average Length
250778
Range
47600165-53040270
Associated Human Genes
FBXO11, NRXN1, NRXN1
Associated Mouse Models
-
Autism Reports
63
Populations
78 (72 case / 6 control)
Individuals
484 (408 case / 76 control)
Summary

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.

Reports related to 2p16.3 (63 Reports)
# Type Title Author, Year
1 Major Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Autism Genome Project Consortium , et al. (2007)
2 Major Structural variation of chromosomes in autism spectrum disorder. Marshall CR , et al. (2008)
3 Minor Identifying autism loci and genes by tracing recent shared ancestry. Morrow EM , et al. (2008)
4 Major Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Glessner JT , et al. (2009)
5 Major Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. Bucan M , et al. (2009)
6 Major Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Guilmatre A , et al. (2009)
7 Major Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Winiowiecka-Kowalnik B , et al. (2010)
8 Minor Clinical genetic testing for patients with autism spectrum disorders. Shen Y , et al. (2010)
9 Major Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Ching MS , et al. (2010)
10 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
11 Major De novo rates and selection of large copy number variation. Itsara A , et al. (2010)
12 Minor A genotype resource for postmortem brain samples from the Autism Tissue Program. Wintle RF , et al. (2011)
13 Major Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Bremer A , et al. (2011)
14 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
15 Minor Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Nord AS , et al. (2011)
16 Minor 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. Soysal Y , et al. (2011)
17 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
18 Major Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
19 Minor Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. Ben-David E , et al. (2011)
20 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
21 Major Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Duong L , et al. (2012)
22 Major Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Schaaf CP , et al. (2012)
23 Minor The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. Tzetis M , et al. (2012)
24 Minor Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. Ye T , et al. (2012)
25 Minor Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? Van Den Bossche MJ , et al. (2012)
26 Minor 2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragma... Bermudez-Wagner K , et al. (2012)
27 Major A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
28 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
29 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
30 Major Identification of rare copy number variants in high burden schizophrenia families. Van Den Bossche MJ , et al. (2013)
31 Major Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Bna F , et al. (2013)
32 Minor High rate of disease-related copy number variations in childhood onset schizophrenia. Ahn K , et al. (2013)
33 Major Identification of candidate intergenic risk loci in autism spectrum disorder. Walker S and Scherer SW (2013)
34 Minor Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
35 Major Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL , et al. (2013)
36 Major A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Agha Z , et al. (2014)
37 Major Etiological yield of SNP microarrays in idiopathic intellectual disability. Utine GE , et al. (2014)
38 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
39 Major Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis. Imitola J , et al. (2014)
40 Minor Refining analyses of copy number variation identifies specific genes associated with developmental delay. Coe BP , et al. (2014)
41 Major A boy with dysmorphic features, intellectual disability, and biallelic homozygous deletion in NRXN1. Holmquist P (2014)
42 Minor Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014)
43 Major A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. Vias-Jornet M , et al. (2015)
44 Major Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
45 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
46 Minor Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K , et al. (2015)
47 Minor RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. Soueid J , et al. (2016)
48 Minor Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. Oikonomakis V , et al. (2016)
49 Minor The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Wenger TL , et al. (2016)
50 Major Frequency and Complexity of De Novo Structural Mutation in Autism. Brandler WM , et al. (2016)
51 Major Genome-wide characteristics of de novo mutations in autism Yuen RK et al. (2016)
52 Major Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Wolfe K , et al. (2016)
53 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017)
54 Minor Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. Sansovi I , et al. (2017)
55 Minor Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications. Kalsner L , et al. (2017)
56 Major Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
57 Major NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. Al Shehhi M , et al. (2018)
58 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
59 Minor Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder Fan Y et al. (2018)
60 Major Both rare and common genetic variants contribute to autism in the Faroe Islands. Leblond CS , et al. (2019)
61 Major Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Munnich A , et al. (2019)
62 Minor Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019)
63 Major Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. Husson T , et al. (2020)
Show all Case Details Show all Cohort Details

2p16.3

Description:

Lymphoblastoid cell lines (LCLs) from a subset of ASD subjects previously used in Yirmiya et al. 2006 AVPR1a association study.

Diagnosis:

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

Ben-David E , et al. (2011)
Cohort Size: 17

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1822000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console
Algorithm: Canary, PennCNV
Geographical Ancestry: -

2p16.3

Description:

9-year-old female patient with developmental delay and other features, born to father diagnosed with ADHD and early cognitive difficulties

Diagnosis:

Developmental delay (DD), short stature, and multiple congenital anomalies (MCA)

Bermudez-Wagner K , et al. (2012)
Cohort Size: 1

Age Min: 108
Age Max: 108
Average: 108

Male: -
Female: 100
Unknown: -
CNV Size: 190000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: 105K whole-genome microarray (Signature Select v1.1; Signature Genomics/Agilent)
Software: Genoglyphix
Algorithm: -
Geographical Ancestry: Caucasian

2p16.3

Description:

Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study

Diagnosis:

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%).

Bna F , et al. (2013)
Cohort Size: 25

Age Min: 60
Age Max: 708
Average: 193.38461538462

Male: 73
Female: 27
Unknown: -
CNV Size: 1150000

Deletion: 26
Duplication: 0

Total CNV: 26
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

FISH, MLPA, qPCR, aCGH, array SNP

Platform: Agilent 244K, Agilent 105K, Agilent 180K, OGT custom design 180K, Affymetrix 250K NspI, Affymetrix 250K, Affymetrix Cyto-2.7 M, Illumina 12-330K
Software: -
Algorithm: -
Geographical Ancestry: N/A

2p16.3

Description:

Probands with childhood onset schizophrenia screened for 46 well-documented neurodevelopmental risk CNVs

Diagnosis:

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.

Ahn K , et al. (2013)
Cohort Size: 126

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 112000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human or HumanOmni Beadchips
Software: Illumina GenomeStudio, CNVision, Nexus copy number
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A

2p16.3

Description:

Affected family members (a mother and two male offspring) from a consanguineous Pakistani family (MRQ12)

Diagnosis:

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.

Agha Z , et al. (2014)
Cohort Size: 3

Age Min: 468
Age Max: 864
Average: 604

Male: 67
Female: 33
Unknown: -
CNV Size: 610000

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

Array SNP

Validation Method:

qPCR

Platform: Affymetrix 250K
Software: -
Algorithm: -
Geographical Ancestry: Pakistani

2p16.3

Description:

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)

Diagnosis:

Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.

Brandler WM , et al. (2016)
Cohort Size: 71

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 166000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

PCR

Platform: Illumina HiSeq
Software: SVtyper
Algorithm: Lumpy
Geographical Ancestry: N/A

2p16.3

Description:

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

Diagnosis:

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

Al Shehhi M , et al. (2018)
Cohort Size: 34

Age Min: 12
Age Max: 288
Average: 104.9696969697

Male: 62
Female: 38
Unknown: -
CNV Size: -

Deletion: 34
Duplication: 0

Total CNV: 34
Discovery Method:

aCGH

Validation Method:

Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")

Platform: Platform N/A
Software: -
Algorithm: -
Geographical Ancestry: Ireland

2p16.3

Description:

Individuals from 912 multiplex families (AGRE cohort)

Diagnosis:

ASD

Bucan M , et al. (2009)
Cohort Size: 3832

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 439406

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: HumanHap550 V3
Software: -
Algorithm: Penn CNV
Geographical Ancestry: -

2p16.3

Description:

Unrelated ASD patients (ACC cohort). 54% simplex, 46% multiplex

Diagnosis:

828 diagnosed with autism, 31 with other ASDs

Bucan M , et al. (2009)
Cohort Size: 859

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 533842

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: HumanHap550 V3
Software: -
Algorithm: Penn CNV
Geographical Ancestry: European

2p16.3

Description:

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

Diagnosis:

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

Bremer A , et al. (2011)
Cohort Size: 223

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 374000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

MLPA, FISH

Platform: BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: Swedish

2p16.3

Description:

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)

Diagnosis:

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

Brandler WM , et al. (2018)
Cohort Size: 880

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 504787

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

WGS

Validation Method:

PCR, array SNP

Platform: Illumina HiSeq X10 or HiSeq 2500
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A

2p16.3

Description:

Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)

Diagnosis:

Cases diagnosed with ASD

Brandler WM , et al. (2018)
Cohort Size: 1979

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 489848

Deletion: 6
Duplication: 0

Total CNV: 6
Discovery Method:

WGS

Validation Method:

None

Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A

2p16.3

Description:

Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009

Diagnosis:

Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations

Ching MS , et al. (2010)
Cohort Size: 3540

Age Min: 10
Age Max: 168
Average: 70.1

Male: 40
Female: 60
Unknown: -
CNV Size: 315000

Deletion: 10
Duplication: 0

Total CNV: 10
Discovery Method:

aCGH

Validation Method:

PCR

Platform: Agilent 244K
Software: Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
Algorithm: ADM-2
Geographical Ancestry: -

2p16.3

Description:

Prenatal and postnatal patients tested between Feb. 2008 and June 2012 by Signature Genomics Laboratories using aCGH platforms providing coverage over NRXN1

Diagnosis:

Most common indications for study: intellectual disability (ID), developmental delay (DD), and/or multiple congenital anomalies

Van Den Bossche MJ , et al. (2013)
Cohort Size: 30065

Age Min: 15
Age Max: 672
Average: 127.06451612903

Male: 54
Female: 46
Unknown: -
CNV Size: 686142

Deletion: 40
Duplication: 0

Total CNV: 40
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Signature Genomics SignatureChip OS v1.0 (105K), v2.0 (135K), or v3.0 (135K) (manufactured by Agilent) or BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: N/A

2p16.3

Description:

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").

Diagnosis:

Intellectual disability, developmental delay, and/or ASD

Coe BP , et al. (2014)
Cohort Size: 29085

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1110000

Deletion: 30
Duplication: 0

Total CNV: 30
Discovery Method:

aCGH

Validation Method:

None

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A

2p16.3

Description:

Autistic proband from a family multiply affected with psychiatric, neurological, and somatic disorders.

Diagnosis:

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.

Duong L , et al. (2012)
Cohort Size: 1

Age Min: 396
Age Max: 396
Average: 396

Male: 100
Female: -
Unknown: -
CNV Size: 451000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR

Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Denmark

2p16.3

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Engchuan W , et al. (2015)
Cohort Size: 1892

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 499967

Deletion: 27
Duplication: 5

Total CNV: 32
Discovery Method:

Solid phase hybridization

Validation Method:

Yes

Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

2p16.3

Description:

Discovery case samples derived from AGRE set 4 (most recent patient recruitment)

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 631

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 373015

Deletion: 9
Duplication: 2

Total CNV: 11
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European

2p16.3

Description:

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

Diagnosis:

Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.

Deciphering Developmental Disorders Study (2014)
Cohort Size: 1133

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 14706

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, WES

Validation Method:

None

Platform: Agilent 2x1M, Agilent Exome+
Software: Cnsolidate, CoNVex
Algorithm: -
Geographical Ancestry: UK and Ireland

2p16.3

Description:

Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center

Diagnosis:

Cases diagnosed with ASD (DSM-5, ADOS, CARS)

Fan Y et al. (2018)
Cohort Size: 401

Age Min: 18
Age Max: 18
Average: 18

Male: 100
Female: -
Unknown: -
CNV Size: 375000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan HD
Software: ChAS
Algorithm: -
Geographical Ancestry: Chinese

2p16.3

Description:

ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort

Diagnosis:

All cases diagnosed with ASD

Feliciano P et al. (2019)
Cohort Size: 465

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 36484

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A

2p16.3

Description:

Replication case samples derived from AGRE sets 1-3

Diagnosis:

Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes

Gai X , et al. (2011)
Cohort Size: 593

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 241327

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European

2p16.3

Description:

Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families

Diagnosis:

859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)

Glessner JT , et al. (2009)
Cohort Size: 859

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 326956

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, array SNP

Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European

2p16.3

Description:

Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families

Diagnosis:

1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)

Glessner JT , et al. (2009)
Cohort Size: 1336

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 326956

Deletion: 6
Duplication: 0

Total CNV: 6
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, array SNP

Platform: HumanHap550 BeadChip
Software: -
Algorithm: PennCNV
Geographical Ancestry: European

2p16.3

Description:

1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.

Diagnosis:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Girirajan S , et al. (2013)
Cohort Size: 2588

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 459281

Deletion: 7
Duplication: 0

Total CNV: 7
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen 135K array)

Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA

2p16.3

Description:

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.

Diagnosis:

257 cases with autism, 3 cases with Aspberger syndrome

Guilmatre A , et al. (2009)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: <427000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

QMPSF

Validation Method:

QMPSF, aCGH, FISH

Platform: ABI Prism 3100 sequencer (Applied Biosystems)
Software: GeneScan 3.7
Algorithm: -
Geographical Ancestry: France (231), Italy (29)

2p16.3

Description:

ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection

Diagnosis:

ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)

Itsara A , et al. (2010)
Cohort Size: 1330

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 62136

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (custom NimbleGen 12 X 135)

Platform: Illumina HumanHap550v1 and v3 SNP array
Software: Illumina GenomeStudio
Algorithm: HMM
Geographical Ancestry: -

2p16.3

Description:

Fraternal twins that were born to healthy, non-consanguineous parents presenting with biallelic deletions involving NRXN1

Diagnosis:

Diagnosis of Pitt-Hopkins-like syndrome 2; both cases presenting with autism and severe cognitive deficits, one case also presenting with atypical absence epilepsy

Imitola J , et al. (2014)
Cohort Size: 2

Age Min: 84
Age Max: 84
Average: 84

Male: 50
Female: 50
Unknown: -
CNV Size: 282000

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

FISH

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: White

2p16.3

Description:

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

Diagnosis:

Severe intellectual disability, absent speech, impaired social interactions, stereotypies, failure-to-thrive, and dysmorphic features.

Holmquist P (2014)
Cohort Size: 1

Age Min: 48
Age Max: 48
Average: 48

Male: 100
Female: -
Unknown: -
CNV Size: 170000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

MLPA

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: Middle Eastern

2p16.3

Description:

Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program

Diagnosis:

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

Kalsner L , et al. (2017)
Cohort Size: 100

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 365000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: Platform not reported
Software: -
Algorithm: -
Geographical Ancestry: 52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity

2p16.3

Description:

A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center

Diagnosis:

Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).

Husson T , et al. (2020)
Cohort Size: 253

Age Min: 72
Age Max: 144
Average: 100

Male: 100
Female: -
Unknown: -
CNV Size: 6167

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH, WES

Validation Method:

WES, ddPCR, QMPSF, aCGH

Platform: Agilent 180K, Illumina HiSeq4000
Software: CANOES
Algorithm: -
Geographical Ancestry: France

2p16.3

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 572608

Deletion: 13
Duplication: 0

Total CNV: 13
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis

Platform: Agilent 44K, Agilent 105K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: NA

2p16.3

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

Krumm N , et al. (2015)
Cohort Size: 2377

Age Min: -
Age Max: -
Average: -

Male: 75
Female: 25
Unknown: -
CNV Size: 408252

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Platform: -
Software: -
Algorithm: CoNIFER, XHMM
Geographical Ancestry: N/A

2p16.3

Description:

Individuals predominantly recruited from the middle of Honshu Island (Japan)

Diagnosis:

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.

Kushima I , et al. (2018)
Cohort Size: 1108

Age Min: 168
Age Max: 828
Average: 466

Male: 17
Female: 83
Unknown: -
CNV Size: 821048

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

N/A

Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese

2p16.3

Description:

Individuals predominantly recruited from the middle of Honshu Island (Japan)

Diagnosis:

Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.

Kushima I , et al. (2018)
Cohort Size: 2458

Age Min: 168
Age Max: 828
Average: 466

Male: 17
Female: 83
Unknown: -
CNV Size: 247100

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

N/A

Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese

2p16.3

Description:

Autistic probands from 887 families from the Simons Simplex Collection (SSC)

Diagnosis:

ASD

Levy D , et al. (2011)
Cohort Size: 858

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 43807

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent 244K)

Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -

2p16.3

Description:

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.

Diagnosis:

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).

Leblond CS , et al. (2019)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 129800

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization, WES

Validation Method:

SnipPeep and XHMM plot visualizations

Platform: Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
Software: XHMM
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: Faroe Islands

2p16.3

Description:

Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites

Diagnosis:

ASD

Marshall CR , et al. (2008)
Cohort Size: 427

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 78999

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP, karotyping

Validation Method:

qPCR, qmPCR

Platform: Affymetrix 500K
Software: -
Algorithm: dChip, CNAG, GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African

2p16.3

Description:

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.

Diagnosis:

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.

Lionel AC , et al. (2013)
Cohort Size: 5384

Age Min: 288
Age Max: 288
Average: 288

Male: 100
Female: -
Unknown: -
CNV Size: 29973

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Software: Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: NA

2p16.3

Description:

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.

Diagnosis:

ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)

Morrow EM , et al. (2008)
Cohort Size: 94

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 236300

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

-

Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan

2p16.3

Description:

Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region

Diagnosis:

Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R

Munnich A , et al. (2019)
Cohort Size: 502

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 250000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH, karyotyping

Validation Method:

FISH

Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: France

2p16.3

Description:

Youth with ASD (as part of mother-father-child trios)

Diagnosis:

ASD

Nord AS , et al. (2011)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 47962

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen HD2
Software: -
Algorithm: Sliding-window algorithm, ~10 kb minumum size threshold
Geographical Ancestry: 29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry

2p16.3

Description:

ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015

Diagnosis:

Cases assessed for ASD according to DSM-IV behavioral criteria

Oikonomakis V , et al. (2016)
Cohort Size: 195

Age Min: 48
Age Max: 72
Average: 60

Male: -
Female: 100
Unknown: -
CNV Size: 249800

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
Software: -
Algorithm: -
Geographical Ancestry: Greece

2p16.3

Description:

Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals

Diagnosis:

ASD (ADI-R and ADOS): strict, broad, or spectrum ASD

Pinto D , et al. (2010)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: 75
Female: 25
Unknown: -
CNV Size: 231738

Deletion: 7
Duplication: 1

Total CNV: 8
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)

Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European

2p16.3

Description:

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)

Diagnosis:

Cases classified according to ADOS and ADI-R

Pinto D , et al. (2014)
Cohort Size: 1359

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 369653

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, long-range PCR

Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European

2p16.3

Description:

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).

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS

Prasad A , et al. (2013)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 64
Female: 36
Unknown: -
CNV Size: 486832

Deletion: 11
Duplication: 3

Total CNV: 14
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada

2p16.3

Description:

Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes

Diagnosis:

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

Sajan SA , et al. (2013)
Cohort Size: 487

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 292518

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None (not tested or failure to confirm by qPCR)

Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian

2p16.3

Description:

Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012

Diagnosis:

ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)

Roberts JL , et al. (2013)
Cohort Size: 215

Age Min: 132
Age Max: 132
Average: 132

Male: -
Female: 100
Unknown: -
CNV Size: 96000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

BACs aCGH or FISH

Platform: 105K or 180K oligonucleotide microarray
Software: Nexus Copy Number (BioDiscovery)
Algorithm: -
Geographical Ancestry: N/A

2p16.3

Description:

Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.

Diagnosis:

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)

Sanders SJ , et al. (2011)
Cohort Size: 1124

Age Min: -
Age Max: -
Average: -

Male: 66
Female: 34
Unknown: -
CNV Size: 513662

Deletion: 40
Duplication: 1

Total CNV: 41
Discovery Method:

Solid phase hybridization

Validation Method:

-

Platform: Illumina 1M v1, Illumina 1M v3
Software: -
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&

2p16.3

Description:

Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine

Diagnosis:

Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features

Sansovi I , et al. (2017)
Cohort Size: 337

Age Min: 72
Age Max: 72
Average: 72

Male: 50
Female: 50
Unknown: -
CNV Size: 61000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia

2p16.3

Description:

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).

Diagnosis:

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)

Shen Y , et al. (2010)
Cohort Size: 848

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 139000

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
Software: CGH Analytics, DNA Analytics software
Algorithm: BRLMM, CNAT4, Partek Genomic Suite
Geographical Ancestry: -

2p16.3

Description:

12 yr. autistic female with scoliosis referred for mild mental retardation (Dept. of Medical Genetics, Afyon Kocatepe Univ., Turkey)

Diagnosis:

ASD

Soysal Y , et al. (2011)
Cohort Size: 1

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 191000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: OGT CytoSure 180K
Software: -
Algorithm: -
Geographical Ancestry: Turkish

2p16.3

Description:

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)

Diagnosis:

ASD (13/24), autistic features (4/24), ADHD (8/22), developmentla delay/intellectual disability (18/21), seizures (11/24), hypotonia (10/24)

Schaaf CP , et al. (2012)
Cohort Size: 24

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 913000

Deletion: 24
Duplication: 0

Total CNV: 24
Discovery Method:

aCGH

Validation Method:

FISH, PCR, DNA sequencing

Platform: BCM V8 OLIGO microarray, Nimblegen Nimblechip HG18 oligo array, ClariSure CGH BACs array
Software: -
Algorithm: -
Geographical Ancestry: Caucasian (n=16), Hispanic (n=5), Caucasian/Hispanic (n=1), Asian (n=1), Ashkenazi Jewish (n=1)

2p16.3

Description:

Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)

Diagnosis:

All cases fulfilled DSM-V criteria for autism

Soueid J , et al. (2016)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 137000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon

2p16.3

Description:

Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Diagnosis:

Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes

Soueid J , et al. (2016)
Cohort Size: 35

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon

2p16.3

Description:

ASD patients from 173 families with at least two affected individuals from AGP

Diagnosis:

Patients diagnosed with ASD based on ADI-R and ADOS

Autism Genome Project Consortium , et al. (2007)
Cohort Size: 196

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 355300

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors

Platform: Affymetrix 10K (v2)
Software: dChip
Algorithm: HMM
Geographical Ancestry: -

2p16.3

Description:

Patients referred for aCGH analysis from 2008-present

Diagnosis:

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)

Tzetis M , et al. (2012)
Cohort Size: 334

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 500000

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 244K, Agilent 4x180K
Software: Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
Algorithm: ADM-1
Geographical Ancestry: Greece

2p16.3

Description:

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.

Diagnosis:

Bipolar disorder (BPD). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 676

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 264 from Belgium, 305 from Sweden, 107 from Scotland

2p16.3

Description:

Patients recruited through specific psychiatric service in Scotland serving the needs of patients with ID who also suffer from behavioral disorders.

Diagnosis:

Intellectual disability (ID). Cases with total IQ<70 met definition of ID.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 260

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland

2p16.3

Description:

Northwestern European individuals with MDD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

Major depressive disorder (MDD). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 169

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 0

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: Scotland

2p16.3

Description:

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.

Diagnosis:

Schizophrenia (SCZ). Final diagnosis based on meeting DSM-IV criteria.

Van Den Bossche MJ , et al. (2012)
Cohort Size: 1281

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 67
Unknown: -
CNV Size: 573000

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

MAQ

Validation Method:

None

Platform: 50 amplicons spanning 6 selected regions (1q21.1, 2p16.3/NRXN1, 3q29, 15q11.2, 15q13.3, 16p11.2)
Software: MAQ-S (in-house MAQ software package)
Algorithm: -
Geographical Ancestry: 170 from Belgium, 543 from Sweden, 568 from Scotland

2p16.3

Description:

Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports

Diagnosis:

Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.

Walker S and Scherer SW (2013)
Cohort Size: 1491

Age Min: -
Age Max: -
Average: -

Male: 83
Female: 17
Unknown: -
CNV Size: 118803

Deletion: 5
Duplication: 1

Total CNV: 6
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

Long-range PCR, qPCR

Platform: Illumina 1M, Affymetrix 6.0
Software: QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Algorithm: -
Geographical Ancestry: N/A

2p16.3

Description:

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)

Diagnosis:

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).

Utine GE , et al. (2014)
Cohort Size: 100

Age Min: 120
Age Max: 120
Average: 120

Male: 100
Female: -
Unknown: -
CNV Size: 130000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

RT-PCR

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.0
Algorithm: -
Geographical Ancestry: Turkey

2p16.3

Description:

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).

Diagnosis:

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).

Vias-Jornet M , et al. (2015)
Cohort Size: 3

Age Min: 132
Age Max: 252
Average: 208

Male: 67
Female: 33
Unknown: -
CNV Size: 627000

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

MLPA

Platform: Agilent 400K
Software: Agilent Workbench 5.0, Cytogenetics software, BioDiscovery Nexus 6.1
Algorithm: -
Geographical Ancestry: Spain

2p16.3

Description:

Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada

Diagnosis:

Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments

Tammimies K , et al. (2015)
Cohort Size: 258

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 488801

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: 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
Software: Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada

2p16.3

Description:

Autistic probands from three families with intragenic rearrangements within the NRXN1 gene

Diagnosis:

Diagnosis of ASD made using ADOS and/or ADI-R.

Winiowiecka-Kowalnik B , et al. (2010)
Cohort Size: 3

Age Min: 48
Age Max: 432
Average: 189.66666666667

Male: 33
Female: 67
Unknown: -
CNV Size: 378998

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

aCGH, FISH, long-range PCR

Platform: BCM MGL/Agilent oligo aCGH (CMA V6.3 OLIGO, V6.4 OLIGO, V6.5 OLIGO)
Software: -
Algorithm: -
Geographical Ancestry: NA

2p16.3

Description:

Autism Tissue Program: postmortem brain tissue from Harvard Brain Tissue Resource Center (HBTRC)

Diagnosis:

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

Wintle RF , et al. (2011)
Cohort Size: 34

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 12500

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

Solid phase hybridization

Platform: Affymetrix 6.0, Illumina Human 1M-duo
Software: QuantiSNP, Affymetrix Genotyping Console
Algorithm: PennCNV, Birdsuite, iPattern
Geographical Ancestry: 31 European, 2 East Asian, 1 African

2p16.3

Description:

Samples from brains >13 years of age provided by the Stanley Medical Research Institute and the Clinical Brain Disorders Branch of NIMH

Diagnosis:

Autism (ASD), n=10; bipolar disorder (BPD), n=84; major depressive disorder (MDD), n=154; schizophrenia (SCZ), n=193

Ye T , et al. (2012)
Cohort Size: 486

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 69000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 1M Duo SNP chip
Software: Illumina GenomeStudio V2010.1
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: NA

2p16.3

Description:

Children with 22q11.21 deletion syndrome screened for "second hit" CNVs affecting one or more genes involving in mGluR signlaing

Diagnosis:

All 75 cases diagnosed with 22q11.2 deletion syndrome (22q11DS); 25 of these cases also present with ASD

Wenger TL , et al. (2016)
Cohort Size: 75

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 20800

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 6.0, Illumina HumanHap 550, or Illumina Human610-Quad v1.0
Software: -
Algorithm: PennCNV
Geographical Ancestry: N/A

2p16.3

Description:

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.

Diagnosis:

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).

Wolfe K , et al. (2016)
Cohort Size: 202

Age Min: 252
Age Max: 252
Average: 252

Male: -
Female: 100
Unknown: -
CNV Size: 549345

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR, FISH, QF-PCR

Platform: Nimblegen 135K
Software: -
Algorithm: -
Geographical Ancestry: 74% White British

2p16.3

Description:

Cases from unrelated trio families from a cohort of Canadian ASD families

Diagnosis:

Cases met criteria for ASD based on ADI-R, ADOS, and clinical evaluation

Yuen RK et al. (2016)
Cohort Size: 200

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 39498

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

N/A

Validation Method:

qPCR, Sanger sequencing

Platform: High-resolution microarray platform
Software: Segseq, ERDS
Algorithm: -
Geographical Ancestry: Canada

2p16.3

Description:

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

Diagnosis:

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

C Yuen RK et al. (2017)
Cohort Size: 2626

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 246499

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

WGS

Validation Method:

aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

agha_14_ID/EP_discovery_cases-caseIII:2

Clinical Profile:

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)

Cognitive Profile:

Mild intellectual disability/learning disabilities

Agha Z , et al. (2014)
Primary Diagnosis: Intellectual disability and epilepsy

Age: 72 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 49982862
CNV End: 50592862
CNV Size: 610001
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1

agha_14_ID/EP_discovery_cases-caseIV:5

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Agha Z , et al. (2014)
Primary Diagnosis: Intellectual disability

Age: 40 yrs.

Gender: M
Primary Disorder Inheritence: Possibly maternal

Family Profile: Multi-generational
CNV Start: 49982862
CNV End: 50592862
CNV Size: 610001
Validation Description: qPCR
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1

agha_14_ID/EP_discovery_cases-caseIV:6

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Agha Z , et al. (2014)
Primary Diagnosis: Intellectual disability and epilepsy

Age: 39 yrs.

Gender: M
Primary Disorder Inheritence: Possibly maternal

Family Profile: Multi-generational
CNV Start: 49982862
CNV End: 50592862
CNV Size: 610001
Validation Description: qPCR
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1

ahn_13_SCZ_discovery_cases-NSB_ID581

Clinical Profile:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years)

Cognitive Profile:

IQ 70

Ahn K , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49944520
CNV End: 50056347
CNV Size: 111828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

ben-david_11_ASD_discovery_cases-proband15

Clinical Profile:

NA

Cognitive Profile:

NA

Ben-David E , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49131265
CNV End: 50953285
CNV Size: 1822000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: NRXN1, FSHR

bena_13_ASD/DD/ID_discovery_cases-case1

Clinical Profile:

Motor developmental delay, language delay, seizures, hypotonia, dysmorphic features, growth -2.5 SD, sleep disturbance

Cognitive Profile:

Severe intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 13 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50113358
CNV End: 51263358
CNV Size: 1150001
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case10

Clinical Profile:

Lanaguge delay, seizures, dysmorphic features, normal growth, periventricular nodular heterotopia, lambdoidsynsostosis, abnormal thumb, micropenis.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50767098
CNV End: 51090333
CNV Size: 323236
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Possible de novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case11

Clinical Profile:

Growth retardation

Cognitive Profile:

No intellectual disabilty

Bna F , et al. (2013)
Primary Diagnosis: Other (non-ASD/-NDD)

Age: 17 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50786509
CNV End: 51076772
CNV Size: 290264
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case12

Clinical Profile:

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.

Cognitive Profile:

No intellectual disabilty

Bna F , et al. (2013)
Primary Diagnosis: ASD

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Unknown
CNV Start: 50734778
CNV End: 51003136
CNV Size: 268359
Validation Description: MLPA
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case13

Clinical Profile:

Motor developmental delay, langauge delay, seizures, hypotonia, dysmorphic features, normal growth, OFC +2 SD.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 25 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50279146
CNV End: 50504064
CNV Size: 224919
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case14

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 10 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50577842
CNV End: 50794350
CNV Size: 216509
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case15

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50577842
CNV End: 50794350
CNV Size: 216509
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case16

Clinical Profile:

Motor developmental delay, language delay, hypotonia, dysmorphic features, normal growth and OFC.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50817937
CNV End: 51034322
CNV Size: 216386
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case17

Clinical Profile:

Motor developmental delay, seizures, dysmorphic features, normal growth, limb stereotypes.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 8 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50613140
CNV End: 50829323
CNV Size: 216184
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case18

Clinical Profile:

Motor developmental delay, seizures, normal muscle tone (no hypotonia), normal growth, hyperactivity, hydrocephalus communicans, hyperacusis, hyperlaxity.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 24 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50948358
CNV End: 51131884
CNV Size: 183527
Validation Description: aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case19

Clinical Profile:

Motor developmental delay, language delay, seizures, hypotonia, normal growth, OFC +1 SD, hyperactivity. Case carries inherited compound heterozygous 2p16.3/NRXN1 deletion.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 10 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50882552
CNV End: 51063885
CNV Size: 181334
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case19

Clinical Profile:

Motor developmental delay, language delay, seizures, hypotonia, normal growth, OFC +1 SD, hyperactivity. Case carries inherited compound heterozygous 2p16.3/NRXN1 deletion.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 10 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50882552
CNV End: 51283823
CNV Size: 401272
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case2

Clinical Profile:

Normal growth

Cognitive Profile:

No intellectual disabilty

Bna F , et al. (2013)
Primary Diagnosis: ASD

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50716390
CNV End: 51331953
CNV Size: 615564
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Possible de novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case20

Clinical Profile:

Language delay, normal growth and OFC

Cognitive Profile:

-

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50873274
CNV End: 51024419
CNV Size: 151146
Validation Description: FISH, MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case21

Clinical Profile:

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).

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: Maternal

Family Profile: Unknown
CNV Start: 50816360
CNV End: 50925968
CNV Size: 109609
Validation Description: aCGH
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case22

Clinical Profile:

Normal motor development, hypotonia, growth -3 SD.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 59 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50894752
CNV End: 50999231
CNV Size: 104480
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case23

Clinical Profile:

Motor developmental delay, language delay, seizures, dysmorphic features, normal growth, hyperactivity.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 15 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50393101
CNV End: 50486385
CNV Size: 93285
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case24

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Multiplex
CNV Start: 50860892
CNV End: 51340397
CNV Size: 479506
Validation Description: MLPA
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case25

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Multiplex
CNV Start: 50860892
CNV End: 51340397
CNV Size: 479506
Validation Description: MLPA
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case3

Clinical Profile:

Motor developmental delay, language delay, seizures, dysmorphic features, growth -2.5 SD, OFC -2.2 SD, hyperactivity, Angelman-like symptoms

Cognitive Profile:

Moderate developmental delay, intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50741114
CNV End: 51352724
CNV Size: 611611
Validation Description: FISH and aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case4

Clinical Profile:

Motor developmental delay, hypotonia, normal growth, OFC -1 SD

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50558041
CNV End: 51087389
CNV Size: 529349
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case5

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 26 yrs.

Gender: F
Primary Disorder Inheritence: Maternal

Family Profile: Unknown
CNV Start: 50296198
CNV End: 50765153
CNV Size: 468956
Validation Description: qPCR
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case6

Clinical Profile:

Motor developmental delay, language delay, seizures, hypotonia, dysmorphic features, normal growth.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 10 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50703043
CNV End: 51099359
CNV Size: 396317
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bena_13_ASD/DD/ID_discovery_cases-case7

Clinical Profile:

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.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 31 yrs.

Gender: M
Primary Disorder Inheritence: Maternal

Family Profile: Unknown
CNV Start: 50561587
CNV End: 50960161
CNV Size: 398575
Validation Description: aCGH
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case8

Clinical Profile:

Osteogenesis imperfecta

Cognitive Profile:

-

Bna F , et al. (2013)
Primary Diagnosis: Other (non-ASD/-NDD)

Age: 55 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50636024
CNV End: 50999696
CNV Size: 363673
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

bena_13_ASD/DD/ID_discovery_cases-case9

Clinical Profile:

Language delay, seizures, dysmorphic features, normal growth. 2p16.3/NRXN1 deletion inherited from mother with anxiety and depression.

Cognitive Profile:

Intellectual disability

Bna F , et al. (2013)
Primary Diagnosis: ASD and intellectual disability

Age: 10 yrs.

Gender: F
Primary Disorder Inheritence: Maternal

Family Profile: Unknown
CNV Start: 50814334
CNV End: 51143323
CNV Size: 328990
Validation Description: -
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

bermudez-wagner_13_DD_discovery_cases-case1

Clinical Profile:

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.

Cognitive Profile:

Developmental delay

Bermudez-Wagner K , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 9 yrs.

Gender: F
Primary Disorder Inheritence: Possibly paternal

Family Profile: Simplex
CNV Start: 50809965
CNV End: 50999092
CNV Size: 189128
Validation Description: -
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

brandler_16_ASD_discovery_cases_probandIII-2

Clinical Profile:

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).

Cognitive Profile:

-

Brandler WM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50603766
CNV End: 50769367
CNV Size: 165602
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

brandler_18_ASD_discovery_cases-caseREACH000322

Clinical Profile:

Case from REACH cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50603762
CNV End: 50769364
CNV Size: 165603
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

brandler_18_ASD_discovery_cases-caseSSC07045

Clinical Profile:

Case from SSC_phase1 cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50928135
CNV End: 51432922
CNV Size: 504788
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_discovery_cases-caseSSC08567

Clinical Profile:

Case from SSC_phase1 cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51007302
CNV End: 51106589
CNV Size: 99288
Validation Description: PCR or SNP data validation
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_replication_cases-case2-1428-003

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50527083
CNV End: 50773241
CNV Size: 246159
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

brandler_18_ASD_replication_cases-case3-0207-000

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50951513
CNV End: 51147537
CNV Size: 196025
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_replication_cases-case3-0368-000

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50340805
CNV End: 50830652
CNV Size: 489848
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

brandler_18_ASD_replication_cases-caseAU4145301

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50953771
CNV End: 51022928
CNV Size: 69158
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_replication_cases-caseAU4145303

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50953771
CNV End: 51022928
CNV Size: 69158
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

brandler_18_ASD_replication_cases-caseSSC12931

Clinical Profile:

Case from SSC_phase2 cohort

Cognitive Profile:

-

Brandler WM , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50859177
CNV End: 50935252
CNV Size: 76076
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

bremer_11_ASD_discovery_cases-case1

Clinical Profile:

Non-syndromic ASD, sporadic case

Cognitive Profile:

MR (IQ<70)

Bremer A , et al. (2011)
Primary Diagnosis: ASD

Age: 6

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 50894953
CNV End: 51063885
CNV Size: 168933
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

bremer_11_ASD_discovery_cases-case1

Clinical Profile:

Non-syndromic ASD, sporadic case

Cognitive Profile:

MR (IQ<70)

Bremer A , et al. (2011)
Primary Diagnosis: ASD

Age: 6

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 50882552
CNV End: 51301336
CNV Size: 418785
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

bucan_09_ASD_discovery_cases-patient10

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 373015
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_discovery_cases-patient11

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 439406
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_discovery_cases-patient7

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 19979
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_discovery_cases-patient8

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 152437
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_discovery_cases-patient9

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 241327
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_replication_cases-patient3

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 134010
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_replication_cases-patient4

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 161199
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_replication_cases-patient5

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 256373
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

bucan_09_ASD_replication_cases-patient6

Clinical Profile:

NA

Cognitive Profile:

NA

Bucan M , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 533842
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ching_10_ASD/DD/MR_discovery_cases-case10

Clinical Profile:

Diagnosis of PDD-NOS (ADOS). Expressive & receptive language delay. Dysmorphic features: dolichocephaly (32 wk premature infant). Hemangioma on back.

Cognitive Profile:

Normal

Ching MS , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: 2 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50633655
CNV End: 50772687
CNV Size: 139033
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

ching_10_ASD/DD/MR_discovery_cases-case11

Clinical Profile:

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).

Cognitive Profile:

Normal

Ching MS , et al. (2010)
Primary Diagnosis: Other

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50654857
CNV End: 50730376
CNV Size: 75520
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

ching_10_ASD/DD/MR_discovery_cases-case12

Clinical Profile:

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).

Cognitive Profile:

Not evaluated

Ching MS , et al. (2010)
Primary Diagnosis: Other

Age: 19 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50654857
CNV End: 50720591
CNV Size: 65735
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

ching_10_ASD/DD/MR_discovery_cases-case3

Clinical Profile:

Mild gross motor delay, hypotonia. Dysmorphic features: epicanthal folds, hypertelorism. Prominent coronal sutures, smaller bifrontal region, feet: high arches & somewhat small length

Cognitive Profile:

Not evaluated

Ching MS , et al. (2010)
Primary Diagnosis: Developmental delay

Age: 10 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50816360
CNV End: 51131743
CNV Size: 315384
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

ching_10_ASD/DD/MR_discovery_cases-case4

Clinical Profile:

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).

Cognitive Profile:

WPPSI-III: Verbal IQ, 77; Performance IQ, 98 (testing at 4 yrs.)

Ching MS , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50856272
CNV End: 51087292
CNV Size: 231021
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

ching_10_ASD/DD/MR_discovery_cases-case5

Clinical Profile:

6 month receptive language delay. Curved 2nd toes, incomplete fusion of ring of 1st cervical vertebra. Narrowed aortic arch, 2 ventricular septal defects (VSDs)

Cognitive Profile:

Normal

Ching MS , et al. (2010)
Primary Diagnosis: Developmental delay

Age: 6 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50839440
CNV End: 50978827
CNV Size: 139388
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

ching_10_ASD/DD/MR_discovery_cases-case6

Clinical Profile:

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).

Cognitive Profile:

Bayley II Mental Scale 91, 29 mos. (age at testing, 31 mos.)

Ching MS , et al. (2010)
Primary Diagnosis: PDD-NOS

Age: 7 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50978768
CNV End: 51235754
CNV Size: 256987
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

ching_10_ASD/DD/MR_discovery_cases-case7

Clinical Profile:

Diagnosis of autism (ADOS). Expressive & receptive language delay. Hyperactivity. Normal EEG. Dysmorphic features: slightly deep set eyes, large ears.

Cognitive Profile:

Mental retardation. Stanford-Binet 5th edition: Full-scale IQ, 47; Verbal IQ, 46; Non-verbal IQ, 53.

Ching MS , et al. (2010)
Primary Diagnosis: Autism + mental retardation

Age: 14 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51009862
CNV End: 51131743
CNV Size: 121882
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

ching_10_ASD/DD/MR_discovery_cases-case8

Clinical Profile:

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.

Cognitive Profile:

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.)

Ching MS , et al. (2010)
Primary Diagnosis: Mental retardation

Age: 11 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50442250
CNV End: 50747125
CNV Size: 304876
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

ching_10_ASD/DD/MR_discovery_cases-case9

Clinical Profile:

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.

Cognitive Profile:

-

Ching MS , et al. (2010)
Primary Diagnosis: Developmental delay

Age: 4 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50608638
CNV End: 50772687
CNV Size: 164050
Validation Description: PCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case511

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case512

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case513

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case514

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case515

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case516

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case517

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case518

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case519

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case520

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case521

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case522

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case523

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case524

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case525

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case526

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case527

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case528

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case529

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case530

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case531

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case532

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case533

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case534

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case535

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case536

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case537

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case538

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case539

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

coe_14_ASD/DD/ID_discovery_cases-case540

Clinical Profile:

N/A

Cognitive Profile:

N/A

Coe BP , et al. (2014)
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49919358
CNV End: 51029358
CNV Size: 1110001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient10

Clinical Profile:

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.

Cognitive Profile:

IQ 76

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: PDD-NOS and ADHD

Age: 8 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50910263
CNV End: 51108604
CNV Size: 198342
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient11

Clinical Profile:

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.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: MCA and premature death

Age: Prenatal

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50908507
CNV End: 51097510
CNV Size: 189004
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient12

Clinical Profile:

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.

Cognitive Profile:

Mild intellectual disability

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Intellectual disability

Age: 13 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50809965
CNV End: 51087292
CNV Size: 277328
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient13

Clinical Profile:

Indication for study: developmental delay, epilepsy.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay and epilepsy

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50847379
CNV End: 51077228
CNV Size: 229850
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient14

Clinical Profile:

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.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: MCA

Age: 0 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50819858
CNV End: 51077228
CNV Size: 257371
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient15

Clinical Profile:

Indication for study: epilepsy.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Epilepsy

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50918507
CNV End: 51050275
CNV Size: 131769
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient16

Clinical Profile:

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.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 5 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50847379
CNV End: 51043935
CNV Size: 196557
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient17

Clinical Profile:

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.

Cognitive Profile:

Global developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50819858
CNV End: 51043935
CNV Size: 224078
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient18

Clinical Profile:

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.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Intellectual disability and PDD

Age: 56 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50584244
CNV End: 51169783
CNV Size: 585540
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient19

Clinical Profile:

Indication for study: developmental delay, ASD. Neurological features:.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: ASD and developmental delay

Age: 22 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50819858
CNV End: 50939915
CNV Size: 120058
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient20

Clinical Profile:

Indication for study: multiple congenital anomalies.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: MCA

Age: 0 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50819858
CNV End: 50969109
CNV Size: 149252
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient21

Clinical Profile:

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.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 21 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50939792
CNV End: 51029332
CNV Size: 89541
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient22

Clinical Profile:

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.

Cognitive Profile:

Global developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: ASD and developmental delay

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50908567
CNV End: 51003857
CNV Size: 95291
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient23

Clinical Profile:

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.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: MCA and premature death

Age: Prenatal

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50908507
CNV End: 51003857
CNV Size: 95351
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient24

Clinical Profile:

Indication for study: hypotonia, encephalopathy.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Hypotonia and encephalopathy

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50754974
CNV End: 50999091
CNV Size: 244118
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient25

Clinical Profile:

Indication for study: multiple disabilities.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Multiple disabilities

Age: 9 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50548751
CNV End: 50999091
CNV Size: 450341
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient26

Clinical Profile:

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.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 15 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50548751
CNV End: 50915770
CNV Size: 367020
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient27

Clinical Profile:

Indication for study: abnormal ultrasound.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Abnormal ultrasound

Age: Prenatal

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50599682
CNV End: 50840490
CNV Size: 240809
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient28a

Clinical Profile:

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.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: ASD and developmental delay

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50422503
CNV End: 50784427
CNV Size: 361925
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient29

Clinical Profile:

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.

Cognitive Profile:

Global developmental delay; IQ 47

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: ASD and developmental delay

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50400005
CNV End: 50519720
CNV Size: 119716
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient30

Clinical Profile:

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.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 5 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50599682
CNV End: 50639824
CNV Size: 40143
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient31

Clinical Profile:

Indication for study: encephalopathy.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Encephalopathy

Age: 5 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50539493
CNV End: 50570028
CNV Size: 30536
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient32

Clinical Profile:

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.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: MCA

Age: 15 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50621833
CNV End: 50745146
CNV Size: 123314
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient33a

Clinical Profile:

Indication for study: developmental delay. Family history: older brother (dabell_13_ASD/DD/ID_discovery_cases-patient33b) with 2p16.3/NRXN1 deletion and autism.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 6 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50190522
CNV End: 50856331
CNV Size: 665810
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient33b

Clinical Profile:

Indication for study: autism. Family history: younger sister (dabell_13_ASD/DD/ID_discovery_cases-patient33a) with 2p16.3 NRXN1 deletion and developmental delay.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Autism

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50190522
CNV End: 50856331
CNV Size: 665810
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient34a

Clinical Profile:

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.

Cognitive Profile:

Moderate intellectual disability

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: ASD, ADHD, and intellectual disability

Age: 15 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50038168
CNV End: 50099069
CNV Size: 60902
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient34b

Clinical Profile:

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.

Cognitive Profile:

No intellectual disability

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: ADHD

Age: 7 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50038168
CNV End: 50099069
CNV Size: 60902
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient35

Clinical Profile:

Indication for study: congenital heart disease.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Congenital heart disease

Age: 0 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50745086
CNV End: 50908567
CNV Size: 163482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient36

Clinical Profile:

Indication for study: developmental delay, short stature.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 2 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51043875
CNV End: 51169783
CNV Size: 125909
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient37

Clinical Profile:

Indication for study: developmental delay, epilepsy.

Cognitive Profile:

Developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay and epilepsy

Age: 3 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51043875
CNV End: 51273452
CNV Size: 229578
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient4

Clinical Profile:

Indication for study: ASD.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: ASD

Age: 23 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50908507
CNV End: 51594649
CNV Size: 686143
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: KNOP1P3, NRXN1

dabell_13_ASD/DD/ID_discovery_cases-patient5a

Clinical Profile:

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.

Cognitive Profile:

Severe ID

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay and epilepsy

Age: 23 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50915710
CNV End: 51474869
CNV Size: 559160
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient5b

Clinical Profile:

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.

Cognitive Profile:

IQ 65

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability and ADHD

Age: 20 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50915710
CNV End: 51474869
CNV Size: 559160
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient6

Clinical Profile:

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.

Cognitive Profile:

Borderline intellectual disability

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: PDD-NOS

Age: 10 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50908507
CNV End: 51273452
CNV Size: 364946
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient7

Clinical Profile:

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.

Cognitive Profile:

Developmental delay; IQ in 80s

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay, ADHD, and bipolar disorder

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50707423
CNV End: 51237542
CNV Size: 530120
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient8

Clinical Profile:

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.

Cognitive Profile:

-

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 2 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50908507
CNV End: 51131053
CNV Size: 222547
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

dabell_13_ASD/DD/ID_discovery_cases-patient9

Clinical Profile:

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.

Cognitive Profile:

Mild developmental delay

Van Den Bossche MJ , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50819858
CNV End: 51131053
CNV Size: 311196
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

duong_12_ASD_discovery_cases-proband

Clinical Profile:

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.

Cognitive Profile:

Mental retardation/intellectual disability, initially diagnosed at 1 year of age.

Duong L , et al. (2012)
Primary Diagnosis: Autism

Age: 33 yrs.

Gender: M
Primary Disorder Inheritence: Possibly maternal (mother displays sub-diagnostic autistic traits)

Family Profile: Simplex for ASD, MR, and epilepsy; multiplex for psychiatric disorder (affected brother)
CNV Start: 50585753
CNV End: 51036374
CNV Size: 450622
Validation Description: qPCR
Primary Disorder Inheritence: Possibly maternal (mother displays sub-diagnostic autistic traits)
CNV Inheritance: Maternal
Family Profile: Simplex for ASD, MR, and epilepsy; multiplex for psychiatric disorder (affected brother)
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

engchuan_15_ASD_discovery_cases-case13017_223

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50459235
CNV End: 50649904
CNV Size: 190670
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1

engchuan_15_ASD_discovery_cases-case13037_463

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50921934
CNV End: 51077100
CNV Size: 155167
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case13153_1703

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50909664
CNV End: 51141401
CNV Size: 231738
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case13205_2303

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 49353427
CNV End: 49420887
CNV Size: 67461
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case13216_2383

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50887566
CNV End: 51133529
CNV Size: 245964
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14024_490

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51036011
CNV End: 51161490
CNV Size: 125480
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14068_1180

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50413185
CNV End: 50597193
CNV Size: 184009
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1

engchuan_15_ASD_discovery_cases-case14072_1250

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 48808575
CNV End: 48850993
CNV Size: 42419
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14144_2420

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51076772
CNV End: 51145209
CNV Size: 68438
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case16074_1571042001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 49957256
CNV End: 50326908
CNV Size: 369653
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case17027_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50995969
CNV End: 51066958
CNV Size: 70990
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case17034_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52179922
CNV End: 52355628
CNV Size: 175707
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case18121_302

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50718333
CNV End: 50831607
CNV Size: 113275
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case20071_1335001

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52179922
CNV End: 52355628
CNV Size: 175707
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case21052_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50831607
CNV End: 50874445
CNV Size: 42839
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case2279_102

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 48867105
CNV End: 48923276
CNV Size: 56172
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3320_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 47928345
CNV End: 47970829
CNV Size: 42485
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3394_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51076772
CNV End: 51108720
CNV Size: 31949
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3394_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51359255
CNV End: 51399041
CNV Size: 39787
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3473_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50655015
CNV End: 50723855
CNV Size: 68841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

engchuan_15_ASD_discovery_cases-case3485_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50645969
CNV End: 50749347
CNV Size: 103379
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

engchuan_15_ASD_discovery_cases-case3513_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52540303
CNV End: 53040270
CNV Size: 499968
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FTH1P6, MIR4431

engchuan_15_ASD_discovery_cases-case4193_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 49367164
CNV End: 49512223
CNV Size: 145060
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case4504_1

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50655015
CNV End: 50723855
CNV Size: 68841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

engchuan_15_ASD_discovery_cases-case5072_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50831607
CNV End: 50874445
CNV Size: 42839
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case5201_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52070754
CNV End: 52170379
CNV Size: 99626
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case5413_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50655015
CNV End: 50723855
CNV Size: 68841
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

engchuan_15_ASD_discovery_cases-case6125_4

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50741670
CNV End: 50805721
CNV Size: 64052
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case6197_4

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50741670
CNV End: 50820220
CNV Size: 78551
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case6278_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 49433197
CNV End: 49516922
CNV Size: 83726
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case6296_3

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51673698
CNV End: 51713901
CNV Size: 40204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case8502_201

Clinical Profile:

Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)

Cognitive Profile:

-

Engchuan W , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52602320
CNV End: 52666027
CNV Size: 63708
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

fitzgerald_14_ASD/DD/ID_discovery_cases-case000023

Clinical Profile:

Clinical profile N/A; CNV from Supplementary Table S29

Cognitive Profile:

N/A

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: N/A

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 47805906
CNV End: 47820612
CNV Size: 14707
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MSH6, FBXO11

gai_11_ASD_discovery_cases-AU1091304

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52151396
CNV End: 52225047
CNV Size: 73652
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1091306

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52151396
CNV End: 52237202
CNV Size: 85807
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1274302

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52426621
CNV End: 52521448
CNV Size: 94828
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1419302

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51022554
CNV End: 51101161
CNV Size: 78608
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1419303

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51022554
CNV End: 51101161
CNV Size: 78608
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1495303

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50882166
CNV End: 51255180
CNV Size: 373015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1495304

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50882166
CNV End: 51255180
CNV Size: 373015
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1679302

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52426621
CNV End: 52510098
CNV Size: 83478
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1679303

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52426621
CNV End: 52513378
CNV Size: 86758
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1764302

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50470517
CNV End: 50522264
CNV Size: 51748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_discovery_cases-AU1848302

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51033960
CNV End: 51051888
CNV Size: 17929
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_replication_cases-AU019604

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 52447487
CNV End: 52506530
CNV Size: 59044
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_replication_cases-AU041105

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51033960
CNV End: 51275286
CNV Size: 241327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_replication_cases-AU041106

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51033960
CNV End: 51275286
CNV Size: 241327
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

gai_11_ASD_replication_cases-AU054203

Clinical Profile:

-

Cognitive Profile:

-

Gai X , et al. (2011)
Primary Diagnosis: Autism

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51134021
CNV End: 51184661
CNV Size: 50641
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: -

girirajan_13a_ASD_discovery_cases-12232.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50915511
CNV End: 50999232
CNV Size: 83722
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-13580.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 51018423
CNV End: 51081029
CNV Size: 62607
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-13609.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 51009662
CNV End: 51101453
CNV Size: 91792
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-13962.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50565279
CNV End: 51024560
CNV Size: 459282
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

girirajan_13a_ASD_discovery_cases-14443.p1

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50921170
CNV End: 51024560
CNV Size: 103391
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-AU1495303

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50801771
CNV End: 51175460
CNV Size: 373690
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-AU2681301

Clinical Profile:

Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)

Cognitive Profile:

N/A

Girirajan S , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50805684
CNV End: 51034768
CNV Size: 229085
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_discovery_cases-1211_004

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_discovery_cases-15062_68740

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_discovery_cases-2367_004

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_discovery_cases-NIMH_157-1155-001_06C58406A

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_replication_cases-AU041105

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_replication_cases-AU041106

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_replication_cases-AU054203

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_replication_cases-AU1210303

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_replication_cases-AU1495303

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

glessner_09_ASD_replication_cases-AU1495304

Clinical Profile:

NA

Cognitive Profile:

NA

Glessner JT , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51040002
CNV End: 51366958
CNV Size: 326957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

guilmatre_09_ASD_discovery_cases-case45431

Clinical Profile:

NA

Cognitive Profile:

IQ NA

Guilmatre A , et al. (2009)
Primary Diagnosis: ASD

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 51006556
CNV End: 51114057
CNV Size: 107000
Validation Description: QMPSF, aCGH, or FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

guilmatre_09_ASD_discovery_cases-caseT35

Clinical Profile:

NA

Cognitive Profile:

IQ 66

Guilmatre A , et al. (2009)
Primary Diagnosis: ASD

Age: 38

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 51006556
CNV End: 51114057
CNV Size: <427000
Validation Description: QMPSF, aCGH, or FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

holmquist_14_ID_discovery_cases-case1

Clinical Profile:

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.

Cognitive Profile:

Severe intellectual disability

Holmquist P (2014)
Primary Diagnosis: Intellectual disability

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50644687
CNV End: 50809787
CNV Size: 165101
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

imitola_14_ASD/ID/EP_discovery_cases-case1

Clinical Profile:

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.

Cognitive Profile:

Severe developmental delay; severe cognitive deficits

Imitola J , et al. (2014)
Primary Diagnosis: Pitt-Hopkins-like syndrome 2

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50957591
CNV End: 51092312
CNV Size: 134722
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

imitola_14_ASD/ID/EP_discovery_cases-case1

Clinical Profile:

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.

Cognitive Profile:

Severe developmental delay; severe cognitive deficits

Imitola J , et al. (2014)
Primary Diagnosis: Pitt-Hopkins-like syndrome 2

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: N/A
CNV End: N/A
CNV Size: 272000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh37
Gene Content: -

imitola_14_ASD/ID/EP_discovery_cases-case2

Clinical Profile:

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.

Cognitive Profile:

Severe developmental delay; severe cognitive deficits

Imitola J , et al. (2014)
Primary Diagnosis: Pitt-Hopkins-like syndrome 2

Age: 7 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50927858
CNV End: 51101658
CNV Size: 173801
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

imitola_14_ASD/ID/EP_discovery_cases-case2

Clinical Profile:

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.

Cognitive Profile:

Severe developmental delay; severe cognitive deficits

Imitola J , et al. (2014)
Primary Diagnosis: Pitt-Hopkins-like syndrome 2

Age: 7 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: N/A
CNV End: N/A
CNV Size: 282000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh37
Gene Content: -

itsara_10_ASD_discovery_cases-HI3024

Clinical Profile:

NA

Cognitive Profile:

NA

Itsara A , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50831607
CNV End: 50893743
CNV Size: 62137
Validation Description: aCGH (custom NimbleGen 12 X 135)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

kalsner_17_ASD_discovery_cases-case4

Clinical Profile:

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

Cognitive Profile:

-

Kalsner L , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50619962
CNV End: 50985445
CNV Size: 365484
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001182

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 47832570
CNV End: 48405178
CNV Size: 572609
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPS27AP7, PPIAP62, RN7SKP224, RNU4-49P, FBXO11, FOXN2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001208

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50856272
CNV End: 51155734
CNV Size: 299463
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001577

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50448670
CNV End: 50909614
CNV Size: 460945
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001843

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50488123
CNV End: 50945044
CNV Size: 456922
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002154

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50851255
CNV End: 50995129
CNV Size: 143875
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002228

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50737710
CNV End: 51173556
CNV Size: 435847
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50485201
CNV End: 50531213
CNV Size: 46013
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003845

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50710306
CNV End: 51087292
CNV Size: 376987
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003898

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50548752
CNV End: 50755034
CNV Size: 206283
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MTCO1P42, MIR8485, NRXN1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003989

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50665709
CNV End: 50755034
CNV Size: 89326
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004219

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51087233
CNV End: 51329577
CNV Size: 242345
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004576

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51065432
CNV End: 51244648
CNV Size: 179217
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005013

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50710306
CNV End: 50999091
CNV Size: 288786
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case12232.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Trio

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50921824
CNV End: 50925998
CNV Size: 4175
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case13962.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50620021
CNV End: 51028273
CNV Size: 408253
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

krumm_15_ASD_discovery_cases-case14443.p1

Clinical Profile:

Proband from the Simons Simplex Collection (SSC). Family type: Quad

Cognitive Profile:

-

Krumm N , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: Male
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50921524
CNV End: 51026469
CNV Size: 104946
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-11152.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 47600165
CNV End: 47615168
CNV Size: 15004
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

levy_11_ASD_discovery_cases-12119.p1

Clinical Profile:

NA

Cognitive Profile:

NA

Levy D , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 50603006
CNV End: 50646812
CNV Size: 43807
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

lionel_13_ASD/SCZ/EP_discovery_cases-proband5

Clinical Profile:

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.

Cognitive Profile:

Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.

Lionel AC , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: 24 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 52524432
CNV End: 52554404
CNV Size: 29973
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

marshall_08_ASD_discovery_cases-MM0063-003

Clinical Profile:

NA

Cognitive Profile:

NA

Marshall CR , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 50641413
CNV End: 50720411
CNV Size: 78999
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

morrow_08_ASD_discovery_cases-case11101

Clinical Profile:

NA

Cognitive Profile:

NA

Morrow EM , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 51079000
CNV End: 51315000
CNV Size: 236300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

nord_11_ASD_discovery_cases-256-1

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: ASD

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 49063311
CNV End: 49111272
CNV Size: 47962
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: Unknown
Gene Content: -

oikonomakis_16_ASD_discovery_cases-case324

Clinical Profile:

Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hyperactivity, isolated behavior

Cognitive Profile:

-

Oikonomakis V , et al. (2016)
Primary Diagnosis: ASD

Age: 6 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 50770049
CNV End: 51019829
CNV Size: 249781
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

oikonomakis_16_ASD_discovery_cases-case88

Clinical Profile:

Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hypotonia, speech delay, behavioral problems

Cognitive Profile:

-

Oikonomakis V , et al. (2016)
Primary Diagnosis: ASD

Age: 4 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 51009862
CNV End: 51087292
CNV Size: 77431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case1206_5

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 49486991
CNV End: 49541877
CNV Size: 54887
Validation Description: Affy5.0
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case13017_223

Clinical Profile:

Severe learning disability, nonverbal, no dysmorphic features or associated medical conditions

Cognitive Profile:

IQ<30

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: N/A
CNV Start: 50459235
CNV End: 50649904
CNV Size: 190670
Validation Description: qPCR-Denovo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: N/A
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1

pinto_10_ASD_discovery_cases-case13037_463

Clinical Profile:

No dysmorphic features

Cognitive Profile:

Mild MR

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: N/A
CNV Start: 50921934
CNV End: 51077100
CNV Size: 155167
Validation Description: qPCR-Denovo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: N/A
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case13153_1703

Clinical Profile:

Verbal, Wilms tumor

Cognitive Profile:

Mild MR

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: N/A
CNV Start: 50909664
CNV End: 51141401
CNV Size: 231738
Validation Description: qPCR-Denovo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: N/A
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case14068_1180

Clinical Profile:

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

Cognitive Profile:

Normal IQ

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: N/A
CNV Start: 50413185
CNV End: 50597193
CNV Size: 184009
Validation Description: qPCR-Denovo
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: N/A
Genome Build: GRCh38
Gene Content: MTCO1P42, NRXN1

pinto_10_ASD_discovery_cases-case5072_3

Clinical Profile:

No epilepsy, no dysmorphic features

Cognitive Profile:

Average IQ

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50831607
CNV End: 50874445
CNV Size: 42839
Validation Description: qPCR-Maternal,Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case5201_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 52070754
CNV End: 52170379
CNV Size: 99626
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -

pinto_10_ASD_discovery_cases-case5413_3

Clinical Profile:

NA

Cognitive Profile:

NA

Pinto D , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 50655015
CNV End: 50723855
CNV Size: 68841
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: MIR8485, NRXN1

pinto_14_ASD_discovery_cases2-case13216_2383

Clinical Profile:

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).

Cognitive Profile:

Borderline/low average IQ (PPVT-III VIQ 78, Leiter Brief PIQ 83)

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (possibly multi-generational; mother with broader autism phenotype)
CNV Start: 50887566
CNV End: 51133529
CNV Size: 245964
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown (possibly multi-generational; mother with broader autism phenotype)
Genome Build: GRCh38
Gene Content: -

pinto_14_ASD_discovery_cases2-case16074_1571042001

Clinical Profile:

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).

Cognitive Profile:

Moderate ID (Leiter Brief at 27 y: PIQ 42)

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 49957256
CNV End: 50326908
CNV Size: 369653
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

pinto_14_ASD_discovery_cases2-case17027_1

Clinical Profile:

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.

Cognitive Profile:

No ID (Raven NVIQ 87, PPVT VIQ 71); Vineland: Communication 101, Daily Living Skills 78, Socialization 64, Adaptive Behavior Composite 75

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 50995969
CNV End: 51066958
CNV Size: 70990
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

prasad_12_ASD_discovery_cases-case122686L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50722129
CNV End: 50730867
CNV Size: 8739
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case137917

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49642148
CNV End: 49687742
CNV Size: 45595
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case146446L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50912678
CNV End: 50957509
CNV Size: 44832
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case153190

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50421422
CNV End: 50908253
CNV Size: 486832
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case44307

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 48603879
CNV End: 48627903
CNV Size: 24025
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: STON1-GTF2A1L, STON1

prasad_12_ASD_discovery_cases-case47544L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49725712
CNV End: 49806105
CNV Size: 80394
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case49202

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 51285771
CNV End: 51338727
CNV Size: 52957
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case62249L

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 50912678
CNV End: 50957509
CNV Size: 44832
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case74431

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 49054978
CNV End: 49087192
CNV Size: 32215
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case75420

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 48666046
CNV End: 48676536
CNV Size: 10491
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: STON1-GTF2A1L, STON1

prasad_12_ASD_discovery_cases-case78391

Clinical Profile:

Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV

Cognitive Profile:

-

Prasad A , et al. (2013)
Primary Diagnosis: ASD

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown