Copy Number Variants / 3q29

3q29

Case population data
Control population data
Type
Deletion-Duplication
Average Length
534249
Range
195676676-197366632
Associated Human Genes
DLG1, MUC4, PAK2, TM4SF19
Associated Animal Models
M_Df(3)_1_HT
Autism Reports
51
Populations
63 (57 case / 6 control)
Individuals
426 (317 case / 109 control)
Summary

Summary statement in development

Reports related to 3q29 (51 Reports)
# Type Title Author, Year
1 Minor Clinical genetic testing for patients with autism spectrum disorders. Shen Y , et al. (2010)
2 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
3 Major Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. Schaefer GB , et al. (2010)
4 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
5 Major Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review. Quintero-Rivera F , et al. (2010)
6 Major 1.3Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child. Cobb W , et al. (2010)
7 Minor Rare structural variation of synapse and neurotransmission genes in autism. Gai X , et al. (2011)
8 Minor Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair. Speevak MD and Farrell SA (2011)
9 Minor Novel copy number variants in children with autism and additional developmental anomalies. Davis LK , et al. (2009)
10 Major Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
11 Major Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
12 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)
13 Minor Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance. Gannon WT , et al. (2011)
14 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
15 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
16 Minor SHANK1 Deletions in Males with Autism Spectrum Disorder. Sato D , et al. (2012)
17 Minor Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Davis LK , et al. (2012)
18 Major Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi... Lesca G , et al. (2012)
19 Minor Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? Van Den Bossche MJ , et al. (2012)
20 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
21 Major A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
22 Minor Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Handrigan GR , et al. (2013)
23 Minor Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci. Chilian B , et al. (2013)
24 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
25 Major Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion. Sagar A , et al. (2013)
26 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
27 Major Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Nava C , et al. (2013)
28 Major Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Mulle JG , et al. (2013)
29 Major Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
30 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
31 Major 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)
32 Major Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL , et al. (2013)
33 Minor 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients. Citt S , et al. (2013)
34 Major Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH. Kousoulidou L , et al. (2013)
35 Minor Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. Lionel AC , et al. (2014)
36 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
37 Major Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in... Chong WW , et al. (2014)
38 MiMinorr 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Reinthaler EM , et al. (2014)
39 Minor Copy number variation in Han Chinese individuals with autism spectrum disorder. Gazzellone MJ , 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 Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
42 Minor The landscape of copy number variations in Finnish families with autism spectrum disorders. Kanduri C , et al. (2015)
43 Major A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Biamino E , et al. (2015)
44 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
45 Minor Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... Xu Q , et al. (2016)
46 Minor Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. Picinelli C , et al. (2016)
47 Minor Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
48 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. C Yuen RK , et al. (2017)
49 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
50 Minor Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
51 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
Show all Case Details Show all Cohort Details

3q29

Description:

Proband carrying a novel familial 3q29 deletion centromeric to the 3q29 deletion region that segregated with psychiatric disorders (schizophrenia, major depression, anxiety disorder, personality disorder) in the proband's family

Diagnosis:

Proband diagnosed with severe autism accompanied with cognitive delay at age of 30 months after evaluation with ADOS module 1 (communication score 9, reciprocal social interaction score 12), CARS (score of 39), and VABS (age-equivalent score of 20 months versus chronological age of 4 years).

Biamino E , et al. (2015)
Cohort Size: 1

Age Min: 108
Age Max: 108
Average: 108

Male: -
Female: 100
Unknown: -
CNV Size: 1360000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

Real-time qPCR

Platform: Agilent 44K
Software: Agilent CGH Analytics v.4.0.81
Algorithm: ADM-2
Geographical Ancestry: Italy

3q29

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: 432716

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

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

3q29

Description:

Male patient, fourth of five child born at term gestation to healthy non-consanguineous parents.

Diagnosis:

ASD (diagnosis criteria unknown). Additional diagnosis of ADHD (inattentive type), diagnosis tools unknown.

Cobb W , et al. (2010)
Cohort Size: 1

Age Min: 81
Age Max: 81
Average: 81

Male: 100
Female: -
Unknown: -
CNV Size: 1300000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACS aCGH (ClariSure 1 MB array)
Software: Genepix 6.0, oneClickCGH (Infoquant)
Algorithm: -
Geographical Ancestry: -

3q29

Description:

Autistic cases from Autism Genetic Research Exchange (AGRE)

Diagnosis:

ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features

Davis LK , et al. (2009)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 247667

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 250K Nsp, Affymetrix 250K Syt
Software: CNAG v2.0
Algorithm: HMM
Geographical Ancestry: NA

3q29

Description:

Proband from simplex family recruited and assessed by Autism Center of Excellence (ACE) at the University of Illinois-Chicago

Diagnosis:

Diagnosis of autistic disorder at 43 months of age. Diagnostic evaluation performed using ADI-R and ADOS-WPS module 3. Additional measures: Repetitve Behavior Scale-Revised (RBS-R) and Aberrant Behavior Checklist-Community Version (ABC-CV) for repetitive behaviors; Social Communication Questionnaire (SCQ) & Social Responsiveness Scale (SRS) for social interactions; Clinical Evaluation of Language Fundamentals (CELF) for language ability; Wechsler Abbreviated Scale of Intelligence (WASI) for verbal and nonverbal abilities; Vineland Adaptive Behavior Scales (VABS-II) for adaptive functioning.

Davis LK , et al. (2012)
Cohort Size: 1

Age Min: 144
Age Max: 144
Average: 144

Male: 100
Female: -
Unknown: -
CNV Size: 133344

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human 1M-Duo DNA Analysis Bead Chip
Software: CNVision
Algorithm: PennCNV, QuantiSNP, Gnosis
Geographical Ancestry: NA

3q29

Description:

Patient, born to healthy non-consanguineous parents with no family history of ID, referred at 18 months of age for marked psychomotor and developmental delay; patient carries balanced de novo triple translocation t(11;17;19)(q13.3;q25.1;q13.42)dn with breakpoint disrupting the SHANK2 gene.

Diagnosis:

Severe DD/ID, language impairment, behavioral abnormalities

Chilian B , et al. (2013)
Cohort Size: 1

Age Min: 60
Age Max: 60
Average: 60

Male: 100
Female: -
Unknown: -
CNV Size: 124355

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent Human Genome CGH Microarray 244A
Software: -
Algorithm: -
Geographical Ancestry: Germany

3q29

Description:

Patients with 3q29 microdeletions recruited in two different Italian research and care hospitals: IRCCS Oasi Maria Santissima, Troina, and IRCCS Carlo Besta, Milan.

Diagnosis:

All four patients met DSM-IV-TR criteria for intellectual disability (ID); cognitive performances assessed using Wechsler Intelligence Scale for Children (WISC-III) or Leiter International Performace Scale -Revised (LIPS-R). One patient with additional comorbidity of PDD-NOS; behavioral performances assessed using Children Behavior Check List (CBCL), adaptive performances assessed using Vineland Behavior Adaptive Scale (VABS).

Citt S , et al. (2013)
Cohort Size: 4

Age Min: 144
Age Max: 168
Average: 153

Male: 50
Female: 50
Unknown: -
CNV Size: 1607314

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

aCGH, karyotyping, FISH

Validation Method:

None

Platform: Agilent Human Genome CGH Oligo Microarray 60K, 44K, and 180K
Software: -
Algorithm: -
Geographical Ancestry: Italy

3q29

Description:

Patients referred to clinical genetics service and recruited for CMA application study

Diagnosis:

Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)

Chong WW , et al. (2014)
Cohort Size: 105

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1560000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

aCGH (NimbleGen)

Platform: High-resolution 180K oligoarray
Software: -
Algorithm: -
Geographical Ancestry: Chinese

3q29

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: 1740000

Deletion: 11
Duplication: 6

Total CNV: 17
Discovery Method:

aCGH

Validation Method:

None

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

3q29

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: 149164

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

3q29

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: 134366

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

3q29

Description:

Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic

Diagnosis:

Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism

Gannon WT , et al. (2011)
Cohort Size: 187

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Genome-wide oligo array with 44K platform
Software: -
Algorithm: -
Geographical Ancestry: Gulf Coast of Alabama, Mississippi, & Florida

3q29

Description:

ASD cases with sporadic autism from the Simons Simplex Collection (SSC)

Diagnosis:

Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.

Girirajan S , et al. (2011)
Cohort Size: 336

Age Min: -
Age Max: -
Average: -

Male: 90
Female: 10
Unknown: -
CNV Size: 119071

Deletion: 22
Duplication: 19

Total CNV: 41
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -

3q29

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: 96
Age Max: 96
Average: 96

Male: 3
Female: -
Unknown: 97
CNV Size: 1610000

Deletion: 20
Duplication: 18

Total CNV: 38
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -

3q29

Description:

ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.

Diagnosis:

Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

Gazzellone MJ , et al. (2014)
Cohort Size: 104

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 51156

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan HD
Software: -
Algorithm: ChAS, iPattern, Nexus, Partek
Geographical Ancestry: Han Chinese

3q29

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: 2153582

Deletion: 2
Duplication: 3

Total CNV: 5
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

3q29

Description:

Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)

Diagnosis:

Developmental delay

Girirajan S , et al. (2013)
Cohort Size: 31518

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2153582

Deletion: 6
Duplication: 0

Total CNV: 6
Discovery Method:

N/A

Validation Method:

None

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

3q29

Description:

Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)

Diagnosis:

Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol

Girirajan S , et al. (2013)
Cohort Size: 243

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 97905

Deletion: 10
Duplication: 25

Total CNV: 35
Discovery Method:

aCGH

Validation Method:

None

Platform: Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
Software: -
Algorithm: DNA Copy Number v1.6
Geographical Ancestry: 133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American

3q29

Description:

Patients with 16q24.2 deletions recruited at the University of Alberta, Edmonton, the Hospital for Sick Children, Toronto, Signature Genomic Laboratories, and the Mayo Clinic).

Diagnosis:

22 patients with ASD (19 with pervasive developmental delay/PDD, 3 with autism), 3 patients with intellectual disability (defined as IQ<70 by DSM-IV); 11 patients with facial dysmorphisms.

Handrigan GR , et al. (2013)
Cohort Size: 35

Age Min: 240
Age Max: 240
Average: 240

Male: -
Female: 100
Unknown: -
CNV Size: 455116

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH, solid phase hybridization

Validation Method:

None

Platform: Illumina Omni 2.5M-Quad BeadChip, SignatureChipOS V1.0 105K, V2.0 135K, V3.0 135K, BACs aCGH, Agilent 4x180K ISCA V2, Agilent ISCA 44K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: NA

3q29

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: 4203614

Deletion: 10
Duplication: 15

Total CNV: 25
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

3q29

Description:

Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)

Diagnosis:

Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits

Krumm N , et al. (2013)
Cohort Size: 411

Age Min: -
Age Max: -
Average: -

Male: 83
Female: 17
Unknown: -
CNV Size: 1494502

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

WES

Validation Method:

Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection

Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A

3q29

Description:

Cypriot patients with ASD or autistic features

Diagnosis:

Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]

Kousoulidou L , et al. (2013)
Cohort Size: 50

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1070000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: Agilent 400K custom array-CGH
Software: Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
Algorithm: -
Geographical Ancestry: Cyprus

3q29

Description:

Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control

Diagnosis:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.

Kanduri C , et al. (2015)
Cohort Size: 80

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 94065

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish

3q29

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: 78
Female: 22
Unknown: -
CNV Size: 1074625

Deletion: 4
Duplication: 3

Total CNV: 7
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

3q29

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: 660
Average: 414

Male: 50
Female: 50
Unknown: -
CNV Size: 1692142

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

N/A

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

3q29

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: 660
Average: 414

Male: 50
Female: 50
Unknown: -
CNV Size: 1627239

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

3q29

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: 75
Female: 25
Unknown: -
CNV Size: 1630060

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent 244K)

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

3q29

Description:

Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).

Diagnosis:

Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,

Lesca G , et al. (2012)
Cohort Size: 61

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 514000

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: Agilent SurePrint G3 Human CGH Microarray 4x180K
Software: Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
Algorithm: ADM-2
Geographical Ancestry: France

3q29

Description:

Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders: 1619 cases from Alberta Children's Hospital; 14,847 cases from Brain and Body Genetic Resource Exchange (BBGRE) database; 7320 cases from Boston Children's Hospital; 3552 cases from Credit Valley Hospital; 7411 cases from the Hospital for Sick Children; 6626 c

Diagnosis:

64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)

Lionel AC , et al. (2014)
Cohort Size: 89985

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1672701

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Multiple platforms (Agilent, Affymetrix, Illumina)
Software: -
Algorithm: -
Geographical Ancestry: N/A

3q29

Description:

Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)

Diagnosis:

Diagnosis according to ADOS and ADI-R

Leppa VM , et al. (2016)
Cohort Size: 1764

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 500000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
Software: GenomeStudio, CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A

3q29

Description:

Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).

Diagnosis:

Cases assessed with ADI-R

Nava C , et al. (2013)
Cohort Size: 194

Age Min: 56
Age Max: 56
Average: 56

Male: 100
Female: -
Unknown: -
CNV Size: 1594000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

FISH

Platform: Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
Software: GenomeStudio v.2011.1, CNVPartition v.3.1.6
Algorithm: -
Geographical Ancestry: France

3q29

Description:

SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period

Diagnosis:

Diagnosis of schizophrenia based on meeting DSM-IV citeria

Mulle JG , et al. (2013)
Cohort Size: 554

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 846088

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR

Platform: Affymetrix 6.0
Software: Affymetrix power tools software v1.12.0
Algorithm: GLAD, GADA, BEAST
Geographical Ancestry: Ashkenazi Jewish

3q29

Description:

Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives

Diagnosis:

Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)

Picinelli C , et al. (2016)
Cohort Size: 6

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 53687

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SurePrint G3 4x180K
Software: Agilent Cytogenomic Software v2.7
Algorithm: ADM-2
Geographical Ancestry: Italy

3q29

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: 100
Female: -
Unknown: -
CNV Size: 350489

Deletion: 1
Duplication: 2

Total CNV: 3
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

3q29

Description:

ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)

Diagnosis:

Cases diagnosed with ASD

Poultney CS , et al. (2013)
Cohort Size: 299

Age Min: -
Age Max: -
Average: -

Male: 86
Female: 14
Unknown: -
CNV Size: 163625

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

WES

Validation Method:

None

Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European

3q29

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: 1704322

Deletion: 1
Duplication: 0

Total CNV: 1
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

3q29

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: 100
Female: -
Unknown: -
CNV Size: 701745

Deletion: 4
Duplication: 4

Total CNV: 8
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

3q29

Description:

Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)

Diagnosis:

ASD

Rosenfeld JA , et al. (2010)
Cohort Size: 1461

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2438912

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -

3q29

Description:

Two patients (one Caucasian female, one Hispanic male) with 3q29 microdeletions

Diagnosis:

Autism, mental retardation/intellectual disability, & psychiatric symptoms

Quintero-Rivera F , et al. (2010)
Cohort Size: 2

Age Min: 120
Age Max: 180
Average: 150

Male: 50
Female: 50
Unknown: -
CNV Size: 2100000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

FISH

Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Caucasian (n=1), Hispanic (n=1)

3q29

Description:

Patient with 3q29 deletion from the Simons Simplex Collection previousy described in Sanders et al. 2011 CNV report (sanders_11_ASD_discovery_cases-11079.p1)

Diagnosis:

Diagnosis of autism based on meeting criteria on ADOS and ADI-R following enrollment in SSC study at age of 12 years (previous diagnosis of PDD-NOS at age of 4 years); additional diagnoses of intellectual disability (FSIQ of 53 on DAS) and childhood psychosis.

Sagar A , et al. (2013)
Cohort Size: 1

Age Min: 192
Age Max: 192
Average: 192

Male: 100
Female: -
Unknown: -
CNV Size: 1580000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

FISH, aCGH

Platform: Illumina Human 1M BeadChip
Software: -
Algorithm: -
Geographical Ancestry: N/A

3q29

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: 96
Age Max: 96
Average: 96

Male: -
Female: 100
Unknown: -
CNV Size: 1700000

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

3q29

Description:

Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)

Diagnosis:

Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.

Reinthaler EM , et al. (2014)
Cohort Size: 281

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 636000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian

3q29

Description:

Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study

Diagnosis:

All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]

Quintela I , et al. (2017)
Cohort Size: 573

Age Min: 120
Age Max: 156
Average: 140

Male: 33
Female: 67
Unknown: -
CNV Size: 1666108

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.2.2
Algorithm: -
Geographical Ancestry: North West Spain

3q29

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: 135371

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

3q29

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: 65
Female: 35
Unknown: -
CNV Size: 1689956

Deletion: 55
Duplication: 9

Total CNV: 64
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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&

3q29

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: 453000

Deletion: 0
Duplication: 1

Total CNV: 1
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: -

3q29

Description:

Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska

Diagnosis:

Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.

Schaefer GB , et al. (2010)
Cohort Size: 68

Age Min: -
Age Max: -
Average: -

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

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
Software: GenePix Pro 6.0, SpectralWare CGH analysis software
Algorithm: -
Geographical Ancestry: -

3q29

Description:

Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).

Diagnosis:

Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.

Sato D , et al. (2012)
Cohort Size: 1614

Age Min: 384
Age Max: 384
Average: 384

Male: 100
Female: -
Unknown: -
CNV Size: 126226

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
Software: -
Algorithm: DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
Geographical Ancestry: Canadian (n=1158) and European (n=456)

3q29

Description:

Patient referred to genetics clinic (Dept. of Genetics & Laboratory Medicine, Credit Valley Hospital, Ontario, Canada) for non-syndromic speech delay

Diagnosis:

Developmental delay (non-syndromic significant speech delay). Differential diagnosis of ASD ruled out by psychiatric assessment at 3.5 yrs., but no specific diagnosis suggested.

Speevak MD and Farrell SA (2011)
Cohort Size: 1

Age Min: 54
Age Max: 54
Average: 54

Male: 100
Female: -
Unknown: -
CNV Size: 37500

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: CytoChip 105K array
Software: BlueFuse Multi
Algorithm: -
Geographical Ancestry: NA

3q29

Description:

Discovery cohort of Canadian individuals with ASD

Diagnosis:

ASD

Vaags AK , et al. (2012)
Cohort Size: 1158

Age Min: 41
Age Max: 41
Average: 41

Male: 100
Female: -
Unknown: -
CNV Size: 126226

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
Software: -
Algorithm: -
Geographical Ancestry: Canadian

3q29

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: 100
Female: -
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

3q29

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: 100
Female: -
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

3q29

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: 100
Female: -
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

3q29

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: 100
Female: -
Unknown: -
CNV Size: 197000

Deletion: 2
Duplication: 0

Total CNV: 2
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

3q29

Description:

Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.

Diagnosis:

Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).

Yin CL , et al. (2016)
Cohort Size: 335

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 147893

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese

3q29

Description:

Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014

Diagnosis:

66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).

Xu Q , et al. (2016)
Cohort Size: 115

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 5701000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

Platform: BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Software: Affymeytrix Genotyping Console v3.0.2
Algorithm: -
Geographical Ancestry: N/A

3q29

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: 1708000

Deletion: 1
Duplication: 0

Total CNV: 1
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

biamino_15_ASD/ID_discovery_cases-probandIV-2

Clinical Profile:

Proband diagnosed with severe autism accompanied with cognitive delay at age of 30 months after evaluation with ADOS module 1 (communication score 9, reciprocal social interaction score 12), CARS (score of 39), and VABS (age-equivalent score of 20 months versus chronological age of 4 years). Birth/neonatal history: pregnancy reported as normal, with exception of a positive Wald test; normal fetal karyotype (46,XX); born by spontaneous delivery at term; birth weight of 3120 g (25th %ile), length of 50 cm (50th %ile), and OFC of 35 cm (75th %ile); Apgar scores 9/10; suffered from GERD and milk protein intolerance since first months of life. Developmental milestones: reached motor milestones within expected range (independent walking at 14 months); initially referred for langauge delay at age of 30 months. EEG: normal. Brain imaging: normal brain MRI. Behavioral/psychiatric evaluation: motor stereotypies and bruxism at last clinical evaluation (age of 9 years), selective eating with no hyperphagia, nocturnal awakenings, occasional self-injuries. Gastrointestinal evaluation: constipation. Dysmorphic features: acanthosis nigricans on neck and armpits, otherwise no evident facial dysmorphisms. Growth parameters: infantile obesity (weight of 53 kg, height of 138 cm, BMI of 27.8) at age of 9 years; normal growth pattern during initial clincial examination at age of 30 months [weight of 14 kg (50th %ile), height of 95 cm (50th %ile), OFC of 48.5 cm (25th %ile)]. Family history: family history remarkable for psychiatric and ophthalmologic disorders that segregate with the 3q29 deletion in this pedigree; proband's mother (III-6) with history of anxiety disorder, major depression, and obesity; two maternal aunts and a brother of the maternal grandmother (individuals III-4, III-5, and II-3 in this family) were institutionalized for schizophrenia; anxiety disorder reported in maternal great-grandmother (I-2); subject III-1 in this family with ASD, social anxiety, and borderline personality disorder; subject II-2 with dysthymia, avoidant personality disorder, and microcephaly; learning disabilities reported for subjects II-3 and III-4; deletion non-carriers III-2 and III-3 had no history of cognitive and psychiatric disorder.

Cognitive Profile:

Severe cognitive delay (Griffith scale total quotient=34) at last clinical evaluation (age of 9 years)

Biamino E , et al. (2015)
Primary Diagnosis: Autism and intellectual disability

Age: 9 yrs.

Gender: F
Primary Disorder Inheritence: Maternal

Family Profile: Multi-generational
CNV Start: 193329064
CNV End: 194686656
CNV Size: 1357593
Validation Description: Real-time qPCR
Primary Disorder Inheritence: Maternal
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: ATP13A4-AS1, RN7SL447P, LINC02038, DPPA2P3, HES1, RN7SL215P, RNU6-1101P, RPL23AP93, TMEM44-AS1, FAM43A, OPA1-AS1, LINC02028, LINC02048, LINC00887, CPN2, LRRC15, GP5, ATP13A3, TMEM44, ATP13A5, ATP13A4, OPA1, LINC02036, LINC02037, LINC00884, LSG1, LINC02026

brandler_18_ASD_replication_cases-case2-1207-003

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: 195299549
CNV End: 195726122
CNV Size: 426574
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6ATAC24P, RN7SL73P, MUC20P1, MIR570, PPP1R2, APOD, SDHAP2, SMBD1P, MUC20, ACAP2, MUC20-OT1

chilian_13_DD/ID_discovery_cases-case1

Clinical Profile:

Patient referred at 18 months for marked psychomotor and developmental delay. Karyotype: 46, XY, t(11;17;19)(q13.3;q25.1;q13.42)dn; translocation with breakpoints within the SHANK2 and UBE2O genes. Birth/neonatal history: duing pregnancy mother had cervical cancer (treated after birth), born at 39 weeks gestation by C-section; birth weight -0.23 SD, length -0.83 SD, OFC +0.7 SD; uneventful perinatal adaption; ventricular septal defect diagnosed at 2 months. Developmental milestones: psychomotor retardation noted at 1.5 years; sat independently at 8 months, began to walk with support at 2.5 years, independent walking at 3.5 years, not toilet trained at 5 years of age. Language and communication evaluation: no spoken language. Motor and musculoskeletal evaluation: ataxia, able to stand with support. Behavioral/psychiatric evaluation: anxious, exhibited habit disorder with stereotypic movements, decreased sensitivity to pain, often caused self-injury. EEG: increased irregular activity. Brain imaging: normal by ultrasound. Visual and auditory evaluation: normal. Sleep disturbances: serious sleeping disturbances. Other features: elevated alkaline phosphatase, lactate dehydrogenase, and serum magnesium levels. Dysmorphic features: coarse face with facial dysmorphism, broad thorax, clinodactyly of 2nd and 3rd toes. Growth parameters: weight of 19.3 kg (+0.1 SD), length of 105 cm (-1.0 SD) and OFC of 51 cm (0 SD) at 5 years of age. Family history: second child of healthy non-consanguineous parents; no family history of miscarriages, ID, or alcohol exposure in utero.

Cognitive Profile:

Severe DD/ID. Evaluation at age of 1.5 years: Brunet-Lezine development test showed delay in movements, coordination, communication, and social skills; psychomotor development corresponded to 9 months, development quotient of 48; Bayley Scales of Infant Development gave Developmental Index score of 84.

Chilian B , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Possibly simplex (no info on 1st child)
CNV Start: 195631406
CNV End: 195755761
CNV Size: 124356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Possibly simplex (no info on 1st child)
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH1844

Clinical Profile:

Developmental delay

Cognitive Profile:

Developmental delay

Chong WW , et al. (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196005085
CNV End: 197558974
CNV Size: 1553890
Validation Description: Nimblegen aCGH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

citta_13_ID/ASD_discovery_cases-patient1

Clinical Profile:

Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 91; externalizing, 84; total, 66. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 10.0; daily living skills, 9.2; socialization, 10.4; total, 10.0. Birth/neonatal history: delivery at pregnancy week 40; birth weight of 2.850 kg (10th %ile), birth length of 49 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 12 months, babbling at 12 months, first word at 15 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test. Skeletal abnormalities and chest wall deformities: brachycephaly and pectus carinatum. EEG: normal. Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: joint hyperlaxity; REED nevus. Dysmorphic features: high nasal bridge, large posteriorly rotated ears, long narrow face, high palate. Growth parameters: current weight 75th %ile, current height 75th %ile.

Cognitive Profile:

Mild intellectual disability; IQ score of 63 (WISC-III), similar verbal IQ and performance IQ scores; mainstream school education with support

Citt S , et al. (2013)
Primary Diagnosis: Intellectual disability (ID)

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196013486
CNV End: 197583521
CNV Size: 1570036
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

citta_13_ID/ASD_discovery_cases-patient2

Clinical Profile:

Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 71; externalizing, 67; total, 71. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 7.0; daily living skills, 6.4; socialization, 5.9; total, 6.4. Birth/neonatal history: delivery at pregnancy week 39; birth weight of 3.250 kg (50th %ile), birth length of 50 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 13 months, babbling at 8 months, first word at 12 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test. Skeletal abnormalities and chest wall deformities: brachycephaly and kyphosis. EEG: spikes of right frontal region. Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: nasal voice. Dysmorphic features: high nasal bridge, short philtrum, large posteriorly rotated ears, clinodactyly, widely spaced teeth. Growth parameters: current weight 3rd-10th %ile, current height 10th %ile.

Cognitive Profile:

Moderate intellectual disability; IQ score of 48 (WISC-III), verbal IQ score significantly lower than performance IQ score; mainstream school education with support

Citt S , et al. (2013)
Primary Diagnosis: Intellectual disability (ID)

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196005085
CNV End: 197612399
CNV Size: 1607315
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

citta_13_ID/ASD_discovery_cases-patient3

Clinical Profile:

Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 58; externalizing, 53; total, 59. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 5.11; daily living skills, 3.6; socialization, 2.8; total, 3.8. Birth/neonatal history: delivery at pregnancy week 41; birth weight of 2.735 kg (10th %ile), birth length of 47 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 7 months, walking at 15 months, babbling at 8 months, first word at 14 months with subsequent language regression. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test; patient also showed inattention, repetitive and poorly consistent language production and impaired social interaction suggestive of PDD-NOS. Skeletal abnormalities and chest wall deformities: kyphosis, early closure of fontanelle, pectus carinatum. EEG: poor organization, high amplitude, occasional sequences of slow activity, occasional generalized epileptiform discharges. Cardiac defects: patent foramen ovale. Ocular abnormalities: slight photophobia, ocular fundus, slightly pale optic disc. Additional features: episodes of tremor at birth, possibly due to hypocalcemia; intestinal subocclusion due to Mesenterium Commune; joint hyperlaxity, horseshoe kidney. Dysmorphic features: high nasal bridge, microcephaly, short philtrum, large posteriorly rotated ears, clinodactyly, long narrow face, hypospadias. Growth parameters: current weight 10th-25th %ile, current height 10th-25th %ile.

Cognitive Profile:

Severe intellectual disability; IQ score of 37 (LIPS-R); mainstream school education with support

Citt S , et al. (2013)
Primary Diagnosis: Intellectual disability (ID) and PDD-NOS

Age: 13 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: 1600000
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: Estimated gene content: TFRC, ZDHHC19, SLC51A, PCYT1A, TCTEX1D2, TM4SF19, UBXN7, RNF168, C3orf43, WDR53, FBXO45, NRROS, CEP19, PIGX, PAK2, SENP5, NCBP2, PIGZ, MFI2, DLG1, BDH1

citta_13_ID/ASD_discovery_cases-patient4

Clinical Profile:

Children Behavioral Check List (CBCL) results (score above 64 equals index of behavioral problems): internalizing, 76; externalizing, 66; total, 73. Vineland Adaptive Behavior Scale (VABS) results (years): communication, 4.3; daily living skills, 2.6; socialization, <1.6; total, 2.8. Birth/neonatal history: delivery at pregnancy week 39; birth weight of 2.200 kg (<3rd %ile), birth length of 47 cm. Developmental milestones: steady head holding at 3 months, sitting alone at 6 months, walking at 17 months, babbling at 9 months, first word at 12 months. Behavioral/psychiatric evaluation: exhibited both internalizing behaviors (such as withdrawal, anxiety/depression, thought problems) and externalizing behaviors (such as social problems and aggressive behavior) on CBCL test; patient had psychotic outburst at age of 8 years; behavior characterized by withdrawal, irritability and oppositive behaviors, poor tolerance of frustration and anxiety, emotional dysregulation with rapid feelings change and non-contextual laughter, stereotyped behavior, immediate echolalia and repetitive and/or telegraphic, incongruent responses at time of evaluation. Skeletal abnormalities and chest wall deformities: none. EEG: normal (slight excess of fast components during sleep). Cardiac defects: none. Ocular abnormalities: yes (not specified). Additional features: slight cerebellar atrophy. Dysmorphic features: high nasal bridge, short philtrum, large posteriorly rotated ears. Growth parameters: current weight 75th %ile, current height 75th-90th %ile.

Cognitive Profile:

Severe intellectual disability; IQ score unable to be evaluated due to neuropsychiatric disorder (Raven Progressive Colored Matrices administered at age of 11 years showed IQ of 50); mainstream school education with support

Citt S , et al. (2013)
Primary Diagnosis: Intellectual disability (ID)

Age: 14 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196020985
CNV End: 197612399
CNV Size: 1591415
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

cobb_10_ASD_discovery_cases-case1

Clinical Profile:

Diagnosed with autism at 3.5 yrs (diagnosis criteria unknown). Diagnosed with ADHD predominantly inattentive type at 6 yrs. 11 mos. Speech delay. Developmental milestones: sat independently at 6.5 months; crawled at 10 months; first words at 15 months; evaluated for speech and pervasive developmental delay at ~3 yrs. Mild facial dysmorphisms: elongated face, down-slanting palpebral fissures, normally set but somewhat prominent ears, high nasal bridge with prominent tip, short but well-delineated philtrum. Ligamentous laxity. Very midly decreased general tone with notable hypermobility of fingers & hands. No gait ataxia. Digit clinodactyly (mild 5th finger bilaterally). Elongated fingers. Growth parameters: weight, 21.6 kg (45th %ile); height, 125 cm (85th %ile); head circumference, 50.5 cm (25th %ile). No family history of learning difficulties, birth defects, or mental retardation; siblings of case in good health with normal intelligence.

Cognitive Profile:

Low-average to average full-scale IQ scores. Stanford-Binet IQ scores (5 yrs.): full-scale IQ 87 (19th %ile, low average), nonverbal IQ 99 (47th%ile, average), verbal IQ 77 (6th %ile, borderline). Weschler Intelligence Scale IQ scores (6 yrs. 11 mos.): full-scale IQ 84 (14th %ile, low average). General Ability Index (GAI) 0f 94 (34th %ile, average). WRAT 4 scores (6 yrs. 11 mos.): math computation score of 80 (9th %ile, K4 grade level), word reading score of 118 (88th %ile, grade 2.8 level). Strengths noted in associative reasoning, vocabulary, spatial organization, individual word reading & sentence comprehension. Weaknesses noted in verbal formulation, working memory tasks, math computation & spelling. Initially startedin pre-school program for autistic children after ASD diagnosis, transitioned to public mainstream kindergarten at 5 yrs., currently in 1st grade with good-to-satisfactory performance in all academic areas.

Cobb W , et al. (2010)
Primary Diagnosis: ASD

Age: 6.75 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 196044872
CNV End: 197358752
CNV Size: 1313881
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case632

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case633

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case634

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case635

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case636

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case637

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case638

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case639

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case640

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case641

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case642

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case643

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case644

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case645

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case646

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case647

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

coe_14_ASD/DD/ID_discovery_cases-case648

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: 195988732
CNV End: 197628732
CNV Size: 1640001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

davis_09_ASD_discovery_cases-AU072004

Clinical Profile:

Diagnosis: autism. Syndromic autism features: fused ribs

Cognitive Profile:

-

Davis LK , et al. (2009)
Primary Diagnosis: Syndromic ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196743818
CNV End: 196991485
CNV Size: 247667
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: MUC4, MUC20, PPP1R2

davis_09_ASD_discovery_cases-AU072005

Clinical Profile:

Diagnosis: autism. Syndromic autism features: fused ribs

Cognitive Profile:

-

Davis LK , et al. (2009)
Primary Diagnosis: Syndromic ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196743818
CNV End: 196991485
CNV Size: 247667
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: MUC4, MUC20, PPP1R2

davis_12_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autistic disorder at 43 months of age. ADI-R evaluation: impairments in reciprocal social interaction, 23; qualitative abnormalities in communication, 20; restricted and repetitive patterns of behavior, 6; abnormalitiy of development evident at or before 36 months, 3. ADOS evaluation: communication, 4; social, 7; social affect, 7; restricted repetitive behaviors, 3; calibrated severity score, 6. Birth/neonatal history: 38-week gestation (birth weight 3.6 kg); feeding difficulties, generalized hypotonia, and weakness of left leg and arm noted during infancy. Developmental milestones: loss of previously normal language development at 19 months, with language loss persisting for 11 months; gross motor milestones wihtin normal limits (dragged left leg while learning to crawl). Language and communication evaluation: Clinical evaluation of language fundamentals (CELF-4), 109 (73rd %ile); Social communication questionnaire, 26; primarily verbal communication (fluent and conversational language that could be repetitive, usage of overly formal words in conservation, atypical tone and prosody); limited use of gestures and impairments in nonverbal communication. Motor and musculoskeletal evaluation: pattern of asymmetic physical development consistent with mild left hemiparesis; stretch reflexes 2+ and asymmetrical throughout; left side of face less mobile than right. Behavioral/psychiatric evaluation: Repetitive behavior scale-revised, 6; Aberrant behavior checklist-community, 27; Childhood routines inventory (version 1.2), 44; notable behavior patterns include avoidance of eye contact, staring at hands, preference for certain foods and routines, sensitivity to particular pieces of clothing, irritation by other people, conservations about limited range of topics, preference for solitary activities, talking to himself loudly, engagement in reciprocal social smiling, exhibition of limited insight into others' experiences and narrow understanding of the nature of interpersonal relationships; exhibition of multiple sensory-seeking behaviors and sensitivity to certain stimuli and loud noises. Epilepsy/seizures: no report of clinical seizure. EEG: normal at 22 months; repeat EEG at 5 years showed left temporal and frontal epileptiform waves. Brain imaging: brain MRI normal at 22 months. Growth parameters: head circumference of 56.5 cm (98th %ile; in macrocephalic range). Family history: sister with social awkwardness; father with social isolation/anxiety and elevated broader autism phenotype questionnaire aloofness score (3.75); mother reported six miscarriages and one ectopic pregnancy prior to conception of proband.

Cognitive Profile:

Vineland adaptive behavior scale, 98 (45th %ile).

Davis LK , et al. (2012)
Primary Diagnosis: Autism

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195620156
CNV End: 195749118
CNV Size: 128963
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

gai_11_ASD_discovery_cases-AU1087301

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 198679410
CNV End: 198828573
CNV Size: 149164
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: BDH1, LOC220729

gai_11_ASD_discovery_cases-AU1087302

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 198679410
CNV End: 198828573
CNV Size: 149164
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: BDH1, LOC220729

gai_11_ASD_replication_cases-AU056803

Clinical Profile:

-

Cognitive Profile:

-

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

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195847296
CNV End: 195981661
CNV Size: 134366
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: LSG1, FAM43A

gannon_11_ASD/DD_discovery_cases-patientD

Clinical Profile:

Dysmorphic features: unknown

Cognitive Profile:

IQ unknown

Gannon WT , et al. (2011)
Primary Diagnosis: ASD and/or DD

Age: -

Gender: -
Primary Disorder Inheritence: -

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

gazzellone_14_ASD_discovery_cases-case667-3

Clinical Profile:

ASD; no other clinical information provided

Cognitive Profile:

N/A

Gazzellone MJ , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 192650008
CNV End: 192701164
CNV Size: 51157
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

girirajan_11_ASD_discovery_cases-Si1

Clinical Profile:

ADOS score: 8. Vineland composite score: 72.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 120; Non-verbal IQ, 126.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si117

Clinical Profile:

ADOS score: 9. Vineland composite score: 81.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 86; Non-verbal IQ, 78.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195769501
CNV Size: 100266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si122

Clinical Profile:

ADOS score: 6. Vineland composite score: 80.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 122; Non-verbal IQ, 95.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195765787
CNV Size: 96552
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si130

Clinical Profile:

ADOS score: 6. Vineland composite score: 68.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 67; Verbal IQ, 54; Non-verbal IQ, 74.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si133

Clinical Profile:

ADOS score: 9. Vineland composite score: 67.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 48; Verbal IQ, 39; Non-verbal IQ, 59.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si140

Clinical Profile:

ADOS score: 10. Vineland composite score: 64.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 75; Verbal IQ, 84; Non-verbal IQ, 71.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195731060
CNV Size: 61825
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si152

Clinical Profile:

ADOS score: 9. Vineland composite score: 69.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 80; Non-verbal IQ, 94.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195789093
CNV Size: 119858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si153

Clinical Profile:

ADOS score: 10. Vineland composite score: 75.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 74; Non-verbal IQ, 103.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si155

Clinical Profile:

ADOS score: 8. Vineland composite score: 80.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 103; Verbal IQ, 120; Non-verbal IQ, 93.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si170

Clinical Profile:

ADOS score: NA. Vineland composite score: 77.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 109; Verbal IQ, 128; Non-verbal IQ, 97.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 18

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195766651
CNV Size: 97416
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si174

Clinical Profile:

ADOS score: 7. Vineland composite score: 82.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 105; Verbal IQ, 104; Non-verbal IQ, 104.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si178

Clinical Profile:

ADOS score: 9. Vineland composite score: 70.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 62; Verbal IQ, 64; Non-verbal IQ, 67.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195769501
CNV Size: 100266
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si182

Clinical Profile:

ADOS score: 8. Vineland composite score: 62.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 78; Verbal IQ, 60; Non-verbal IQ, 92.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si189

Clinical Profile:

ADOS score: 10. Vineland composite score: 72.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 99; Non-verbal IQ, 119.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195731060
CNV Size: 61825
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si192

Clinical Profile:

ADOS score: 6. Vineland composite score: 85.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 79; Verbal IQ, 60; Non-verbal IQ, 94.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si217

Clinical Profile:

ADOS score: 7. Vineland composite score: 86.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 85; Verbal IQ, 82; Non-verbal IQ, 90.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si226

Clinical Profile:

ADOS score: 4. Vineland composite score: 77.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 91; Non-verbal IQ, 112.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si227

Clinical Profile:

ADOS score: 8. Vineland composite score: 63.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 46; Verbal IQ, 38; Non-verbal IQ, 57.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si233

Clinical Profile:

ADOS score: 7. Vineland composite score: 78.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 104; Verbal IQ, 85; Non-verbal IQ, 114.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195735986
CNV Size: 66751
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si235

Clinical Profile:

ADOS score: 9. Vineland composite score: 95.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 113; Verbal IQ, 99; Non-verbal IQ, 119.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si243

Clinical Profile:

ADOS score: 10. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 83; Non-verbal IQ, 96.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si244

Clinical Profile:

ADOS score: 9. Vineland composite score: 58.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 100; Verbal IQ, 102; Non-verbal IQ, 110.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si247

Clinical Profile:

ADOS score: 6. Vineland composite score: 57.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 76; Verbal IQ, 46; Non-verbal IQ, 93.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195753566
CNV Size: 84331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si3

Clinical Profile:

ADOS score: 10. Vineland composite score: 110.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 88; Verbal IQ, 80; Non-verbal IQ, 96.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si315

Clinical Profile:

ADOS score: 10. Vineland composite score: 81.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 97; Non-verbal IQ, 89.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si34

Clinical Profile:

ADOS score: 10. Vineland composite score: 74.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 55; Verbal IQ, 63; Non-verbal IQ, 55.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195789093
CNV Size: 119858
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si343

Clinical Profile:

ADOS score: 8. Vineland composite score: 77.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 81; Verbal IQ, 72; Non-verbal IQ, 89.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si344

Clinical Profile:

ADOS score: 6. Vineland composite score: 52.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 31; Verbal IQ, 28; Non-verbal IQ, 33.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si37

Clinical Profile:

ADOS score: 8. Vineland composite score: 82.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 128; Verbal IQ, 115; Non-verbal IQ, 129.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si40

Clinical Profile:

ADOS score: 7. Vineland composite score: 78.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 77; Verbal IQ, 82; Non-verbal IQ, 77.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 16

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195732699
CNV Size: 63464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si48

Clinical Profile:

ADOS score: 10. Vineland composite score: 57.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 37; Verbal IQ, 30; Non-verbal IQ, 45.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si5

Clinical Profile:

ADOS score: 8. Vineland composite score: 63.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 92; Non-verbal IQ, 81.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si54

Clinical Profile:

ADOS score: NA. Vineland composite score: NA

Cognitive Profile:

Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si56

Clinical Profile:

ADOS score: 7. Vineland composite score: 64.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 86; Verbal IQ, 106; Non-verbal IQ, 77.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 15

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195753566
CNV Size: 84331
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si62

Clinical Profile:

ADOS score: 8. Vineland composite score: 60.

Cognitive Profile:

Severe mental retardation/intellectual disability. Full-scale IQ, 32; Verbal IQ, 15; Non-verbal IQ, 49.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 10

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si69

Clinical Profile:

ADOS score: 5. Vineland composite score: 62.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 98; Verbal IQ, 95; Non-verbal IQ, 101.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si82

Clinical Profile:

ADOS score: 4. Vineland composite score: 81.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si83

Clinical Profile:

ADOS score: 10. Vineland composite score: 64.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 41; Verbal IQ, 40; Non-verbal IQ, 41.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si88

Clinical Profile:

ADOS score: 5. Vineland composite score: 83.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 91; Verbal IQ, 91; Non-verbal IQ, 94.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si93

Clinical Profile:

ADOS score: 4. Vineland composite score: 80.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 111; Non-verbal IQ, 114.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_11_ASD_discovery_cases-Si94

Clinical Profile:

ADOS score: 8. Vineland composite score: 83.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 137; Verbal IQ, 106; Non-verbal IQ, 146.

Girirajan S , et al. (2011)
Primary Diagnosis: Autism

Age: 14

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_12_ASD/DD/ID_discovery_cases-case1940

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1941

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1942

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1943

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1944

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1945

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1946

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1947

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1948

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1949

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1950

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1951

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1952

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1953

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1954

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1955

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1956

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1957

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1958

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1959

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1960

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1961

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1962

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1963

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1964

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1965

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1966

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1967

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1968

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1969

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1970

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1971

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1972

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case1973

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case25870

Clinical Profile:

Dysmorphic features, seizure disorder, multiple congenital anomalies

Cognitive Profile:

Developmental delay

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case33529

Clinical Profile:

Aberrant subclavian artery

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Cardiac defects

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case42267

Clinical Profile:

Dysmorphic features

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Dysmorphic features

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_12_ASD/DD/ID_discovery_cases-case67345

Clinical Profile:

Mixed developmental disorder, microcephalus, failure to thrive. Speech delay, ADHD, some sensory issues. Normal tone. Dysmorphic features: bitemporal narrowing, thin nose, epicanthal folds, rotated ears, absent antitragus, small philtrum, high palate. Other features: hypothyroidism, rectal prolapsed. Growth parameters: weight 10th %ile, height 25th-50th %ile, OFC -2.7 SD. Family history: mother has mitral valve prolapse.

Cognitive Profile:

IQ 90

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196018732
CNV End: 197628732
CNV Size: 1610001
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13a_ASD_discovery_cases-13064.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: 195581503
CNV End: 197731977
CNV Size: 2150475
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13a_ASD_discovery_cases-13144.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: 196811429
CNV End: 196843407
CNV Size: 31979
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-13746.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: 197471446
CNV End: 197625714
CNV Size: 154269
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: LINC02012, BDH1

girirajan_13a_ASD_discovery_cases-14045.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: 196551691
CNV End: 196556032
CNV Size: 4342
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-AU1087301

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: 197471446
CNV End: 197625714
CNV Size: 154269
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: LINC02012, BDH1

girirajan_13a_DD_discovery_cases-DDcase101

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195581503
CNV End: 197731977
CNV Size: 2150475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13a_DD_discovery_cases-DDcase102

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195581503
CNV End: 197731977
CNV Size: 2150475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13a_DD_discovery_cases-DDcase103

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195581503
CNV End: 197731977
CNV Size: 2150475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13a_DD_discovery_cases-DDcase104

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195581503
CNV End: 197731977
CNV Size: 2150475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13a_DD_discovery_cases-DDcase105

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195581503
CNV End: 197731977
CNV Size: 2150475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13a_DD_discovery_cases-DDcase106

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195581503
CNV End: 197731977
CNV Size: 2150475
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

girirajan_13b_ASD_discovery_cases-12210113025

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-13107107988

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195736875
CNV Size: 67640
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-1709110692

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-20604100546

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-21409111351

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195731060
CNV Size: 61825
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-24705103861

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195763652
CNV Size: 94417
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_13b_ASD_discovery_cases-27008110148

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195732699
CNV Size: 63464
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-28208110205

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-28506106267

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-29806106231

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-29905103852

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-29909111597

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-31906106492

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-34904101211

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-34905104010

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195731060
CNV Size: 61825
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-3508108947

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-38105103519

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-40406106815

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-46805104136

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-4709110813

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-51206107184

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-51604101884

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-52904101932

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-55704100868

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-5603100206

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195699052
CNV End: 195759381
CNV Size: 60330
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SMBD1P, MUC20, MUC4, MUC20-OT1

girirajan_13b_ASD_discovery_cases-57105104492

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195849961
CNV End: 195906118
CNV Size: 56158
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6829, LINC01983, TNK2

girirajan_13b_ASD_discovery_cases-6208109266

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-62104102284

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-708108819

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-8103100683

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-8405102790

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-8705102962

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-9005102681

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195719111
CNV Size: 49876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20-OT1

girirajan_13b_ASD_discovery_cases-9405102860

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195746085
CNV Size: 76850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC20-OT1

girirajan_13b_ASD_discovery_cases-9907107878

Clinical Profile:

Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195669236
CNV End: 195766651
CNV Size: 97416
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR570, SDHAP2, SMBD1P, MUC20, MUC4, MUC20-OT1

handrigan_13_ASD/DD/ID_discovery_cases-patient18

Clinical Profile:

Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.

Cognitive Profile:

Intellectual disability

Handrigan GR , et al. (2013)
Primary Diagnosis: Intellectual disability

Age: 20 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196233399
CNV End: 196615552
CNV Size: 382154
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, SLC51A, PCYT1A, RNF168

handrigan_13_ASD/DD/ID_discovery_cases-patient18

Clinical Profile:

Neurodevelopmental abnormalities: intellectual disability. Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.

Cognitive Profile:

Intellectual disability

Handrigan GR , et al. (2013)
Primary Diagnosis: Intellectual disability

Age: 20 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 194834085
CNV End: 195289201
CNV Size: 455117
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: XXYLT1-AS1, MIR3137, RN7SL36P, RNU6-25P, XXYLT1-AS2, ACAP2-IT1, XXYLT1, ACAP2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000876

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: 196013486
CNV End: 197590232
CNV Size: 1576747
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000980

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: 196013486
CNV End: 197503306
CNV Size: 1489821
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001057

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: 196013486
CNV End: 197590232
CNV Size: 1576747
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001139

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: 196077857
CNV End: 197165715
CNV Size: 1087859
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: TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001715

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: 195972720
CNV End: 197658495
CNV Size: 1685776
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002147

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: 196035777
CNV End: 197606438
CNV Size: 1570662
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156

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: 196035777
CNV End: 196189197
CNV Size: 153421
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: RNU7-18P, TFRC, LINC00885

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002156

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: 197511726
CNV End: 197833102
CNV Size: 321377
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: MIR922, RUBCN, FYTTD1, LRCH3, BDH1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002337

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: 195917073
CNV End: 196336765
CNV Size: 419693
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: RNU2-11P, RNU7-18P, TM4SF19-AS1, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, SLC51A, PCYT1A

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002366

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: 195997494
CNV End: 197662231
CNV Size: 1664738
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002773

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: 196035777
CNV End: 197658540
CNV Size: 1622764
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003765

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: 195965316
CNV End: 197625573
CNV Size: 1660258
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003907

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: 196035777
CNV End: 197662231
CNV Size: 1626455
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003934

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: 196280954
CNV End: 197590232
CNV Size: 1309279
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: TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004256

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: 196013486
CNV End: 197590232
CNV Size: 1576747
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004313

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: 196035777
CNV End: 197625573
CNV Size: 1589797
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004385

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: 195755702
CNV End: 197583580
CNV Size: 1827879
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: KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004618

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: 195711798
CNV End: 197976152
CNV Size: 2264355
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: KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, RNU6-858P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, FYTTD1, LRCH3, RPL35A, LMLN, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, IQCG, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004638

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: 196013486
CNV End: 197590232
CNV Size: 1576747
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004747

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: 196077857
CNV End: 197693741
CNV Size: 1615885
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: TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004858

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: 196013486
CNV End: 197590232
CNV Size: 1576747
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004887

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: 195896948
CNV End: 198110178
CNV Size: 2213231
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: TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, RNU6-858P, RNU6-621P, LMLN-AS1, RNU6-821P, FRG2FP, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, FYTTD1, LRCH3, RPL35A, LMLN, ANKRD18DP, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, IQCG, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005045

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: 193917490
CNV End: 198110319
CNV Size: 4192830
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: DPPA2P3, HES1, RN7SL215P, RNU6-1101P, RPL23AP93, TMEM44-AS1, FAM43A, LINC01972, XXYLT1-AS1, MIR3137, RN7SL36P, RNU6-25P, RNU6ATAC24P, RN7SL73P, MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, RNU6-858P, RNU6-621P, LMLN-AS1, RNU6-821P, FRG2FP, LINC02028, LINC02048, LINC00887, CPN2, LRRC15, GP5, ATP13A3, TMEM44, XXYLT1-AS2, ACAP2-IT1, PPP1R2, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, FYTTD1, LRCH3, RPL35A, LMLN, ANKRD18DP, LINC02036, LINC02037, LINC00884, LSG1, LINC01968, XXYLT1, ACAP2, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, IQCG, LINC02026, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005073

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: 196013486
CNV End: 197590232
CNV Size: 1576747
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: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005162

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: 194424496
CNV End: 198168758
CNV Size: 3744263
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: RNU6-1101P, RPL23AP93, TMEM44-AS1, FAM43A, LINC01972, XXYLT1-AS1, MIR3137, RN7SL36P, RNU6-25P, RNU6ATAC24P, RN7SL73P, MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, RNU6-858P, RNU6-621P, LMLN-AS1, RNU6-821P, FRG2FP, TUBB8P8, ATP13A3, TMEM44, XXYLT1-AS2, ACAP2-IT1, PPP1R2, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, FYTTD1, LRCH3, RPL35A, LMLN, ANKRD18DP, LINC00884, LSG1, LINC01968, XXYLT1, ACAP2, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, IQCG, DLG1, FAM157A

kanduri_15_ASD_discovery_cases-case1974

Clinical Profile:

Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.

Cognitive Profile:

-

Kanduri C , et al. (2015)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 197744198
CNV End: 197838262
CNV Size: 94065
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

kousoulidou_13_ASD_discovery_cases-patient11

Clinical Profile:

Autistic features. Poor concentration. EEG: normal. Family history: affected father with autistic features.

Cognitive Profile:

Intellectual disability (mild), learning difficulties

Kousoulidou L , et al. (2013)
Primary Diagnosis: ID and autistic features

Age: N/A

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Unknown
CNV Start: 196005085
CNV End: 197075850
CNV Size: 1070766
Validation Description: qPCR
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, DLG1

krumm_13_ASD_discovery_cases-case11079.p1

Clinical Profile:

ASD proband from SSC quad family 11079. SRS score of 83.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 53.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 196051941
CNV End: 197546443
CNV Size: 1494503
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

krumm_13_ASD_discovery_cases-case11108.p1

Clinical Profile:

ASD proband from SSC quad family 11108. SRS score of 75.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 104.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 197847408
CNV End: 197914042
CNV Size: 66635
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-858P, LRCH3, IQCG

krumm_13_ASD_discovery_cases-case11336.p1

Clinical Profile:

ASD proband from SSC quad family 11336. SRS score of 81.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 123.

Krumm N , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 197826877
CNV End: 197829673
CNV Size: 2797
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case11079.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: 196471818
CNV End: 197546443
CNV Size: 1074626
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

krumm_15_ASD_discovery_cases-case11079.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: 196217841
CNV End: 196327590
CNV Size: 109750
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TM4SF19-AS1, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, SLC51A, PCYT1A

krumm_15_ASD_discovery_cases-case11079.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: 195895245
CNV End: 196075360
CNV Size: 180116
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TNK2-AS1, RNU2-11P, RNU7-18P, TNK2, SDHAP1, TFRC

krumm_15_ASD_discovery_cases-case11108.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: 197847408
CNV End: 197914042
CNV Size: 66635
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-858P, LRCH3, IQCG

krumm_15_ASD_discovery_cases-case11859.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: 193255650
CNV End: 193263235
CNV Size: 7586
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case13901.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: 197781810
CNV End: 197996282
CNV Size: 214473
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-858P, RNU6-621P, FYTTD1, LRCH3, RPL35A, LMLN, IQCG

krumm_15_ASD_discovery_cases-case14265.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: 197960221
CNV End: 198003125
CNV Size: 42905
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-621P, LMLN

leppa_16_ASD_discovery_cases-AU1042303

Clinical Profile:

-

Cognitive Profile:

-

Leppa VM , et al. (2016)
Primary Diagnosis: ASD

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 196966129
CNV End: 197515129
CNV Size: 549001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR4797, DLG1-AS1, LINC02012, PIGZ, RPSAP69, MELTF, MELTF-AS1, BDH1, DLG1

lesca_12_EP_discovery_cases-case016a

Clinical Profile:

Phenotype: s-CSWSS . Seizure Characteristics: Nocturnal. Autistic features: Yes. ADHD features: Yes. Other features: Global hemi-atrophy of the left hemisphere.

Cognitive Profile:

Initial cognitive development: Delayed. Cognitive regression: No. Verbal IQ 46, performance IQ 50 (at 13 years of age).

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy + autistic features

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 194367828
CNV End: 194409416
CNV Size: 41589
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LRRC15, GP5, ATP13A3

lesca_12_EP_discovery_cases-case7-1514

Clinical Profile:

Phenotype: i-CSWSS. Seizure Characteristics: Mycoclonic, atonic. Autistic features: No. ADHD features: No. Other features: None.

Cognitive Profile:

Initial cognitive development: Normal. Cognitive regression: No.

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 192495164
CNV End: 192634676
CNV Size: 139513
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FGF12-AS2, FGF12-AS3, FGF12

lesca_12_EP_discovery_cases-case7-1514

Clinical Profile:

Phenotype: i-CSWSS. Seizure Characteristics: Mycoclonic, atonic. Autistic features: No. ADHD features: No. Other features: None.

Cognitive Profile:

Initial cognitive development: Normal. Cognitive regression: No.

Lesca G , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 193152832
CNV End: 193667233
CNV Size: 514402
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: VEZF1P1, ATP13A5-AS1, ATP13A4-AS1, HRASLS, OPA1-AS1, ATP13A5, ATP13A4, OPA1

levy_11_ASD_discovery_cases-11079.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: 195997095
CNV End: 197627154
CNV Size: 1630060
Validation Description: aCGH (Agilent 244K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

levy_11_ASD_discovery_cases-11108.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: 197837092
CNV End: 197924839
CNV Size: 87748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-858P, LRCH3, IQCG

lionel_13_ASD/ADHD/DD/ID_discovery_cases-case58

Clinical Profile:

Dysmorphic features and congenital anomalies: frontal bossing, craniosynostosis.

Cognitive Profile:

Intellectual disability

Lionel AC , et al. (2014)
Primary Diagnosis: Intellectual disability

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195974314
CNV End: 197647014
CNV Size: 1672701
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

mulle_13_SCZ_discovery_cases_1-caseAJ_8986_2

Clinical Profile:

N/A

Cognitive Profile:

N/A

Mulle JG , et al. (2013)
Primary Diagnosis: Schizophrenia

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 196201397
CNV End: 197047485
CNV Size: 846089
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, DLG1

nava_13_ASD_discovery_cases-Fam1315Proband433

Clinical Profile:

Developmental milestones: age of walking of 16 months, language delay. Epilepsy/seizures: none. Neurological examination: normal. Dysmorphic features: none. Growth parameters: height, weight, and head circumference within normal ranges.

Cognitive Profile:

No ID

Nava C , et al. (2013)
Primary Diagnosis: ASD

Age: 4 yrs. 8 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 196011535
CNV End: 197605279
CNV Size: 1593745
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1

Clinical Profile:

Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.

Cognitive Profile:

Severe intellectual disability

Picinelli C , et al. (2016)
Primary Diagnosis: ASD and intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 195693716
CNV End: 195717322
CNV Size: 23607
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR570, SMBD1P, MUC20-OT1

picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2

Clinical Profile:

Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.

Cognitive Profile:

TIQ score of 109

Picinelli C , et al. (2016)
Primary Diagnosis: ASD and ADHD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 195692297
CNV End: 195729669
CNV Size: 37373
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR570, SMBD1P, MUC20, MUC20-OT1

picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient3

Clinical Profile:

Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: displayed neurodevelopmental delay at 1 year. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: self-injurious behavior. Family history: paternal uncle diagnosed with Asperger syndrome.

Cognitive Profile:

Developmental delay (TIQ score of 54)

Picinelli C , et al. (2016)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 195692297
CNV End: 195745984
CNV Size: 53688
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: MIR570, SMBD1P, MUC20, MUC20-OT1

pinto_10_ASD_discovery_cases-case1260_10

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: 199052058
CNV End: 199402546
CNV Size: 350489
Validation Description: Illumina550
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: LMLN, IQCG, RPL35A, LOC348840, LRCH3

pinto_10_ASD_discovery_cases-case5065_3

Clinical Profile:

Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted

Cognitive Profile:

Below average nonverbal IQ (<1%ile)

Pinto D , et al. (2010)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 197219312
CNV End: 197527449
CNV Size: 308138
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: PCYT1A, TCTEX1D2, TFRC, ZDHHC19, OSTalpha

pinto_10_ASD_discovery_cases-case5542_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: 196499613
CNV End: 196835453
CNV Size: 335841
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: APOD, ACAP2, PPP1R2

pinto_14_ASD_discovery_cases2-case8588_201

Clinical Profile:

Autism on ADI-R and ADOS, no language delay, hypotonia during childhood, sleep disorder, no epilepsy. Family history: father with socialization difficulties and rigidity; mother healthy; autistic traits in paternal uncle.

Cognitive Profile:

Average IQ (WISC-III at 14 y: VIQ 87, PIQ 78, FSIQ 81)

Pinto D , et al. (2014)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: Possibly paternal

Family Profile: Unknown
CNV Start: 194769492
CNV End: 196464563
CNV Size: 1695072
Validation Description: qPCR
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: XXYLT1-AS1, MIR3137, RN7SL36P, RNU6-25P, RNU6ATAC24P, RN7SL73P, MUC20P1, MIR570, KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, XXYLT1-AS2, ACAP2-IT1, PPP1R2, APOD, SDHAP2, SMBD1P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, LINC01968, XXYLT1, ACAP2, MUC20-OT1, SLC51A, PCYT1A

poultney_13_ASD_discovery_cases-case04HI2755A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1172301; NDAR ID NDAR_INVKH996HE1)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 197985794
CNV End: 198038669
CNV Size: 52876
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RNU6-621P, LMLN-AS1, LMLN

poultney_13_ASD_discovery_cases-case04HI3164A

Clinical Profile:

ASD case from AGRE (AGRE ID AU0597302; NDAR ID NDAR_INVVY213RWC)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 195725798
CNV End: 195749066
CNV Size: 23269
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: MUC20, MUC4, MUC20-OT1

poultney_13_ASD_discovery_cases-case04HI3174A

Clinical Profile:

ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 197511893
CNV End: 197675517
CNV Size: 163625
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: MIR922, RUBCN, BDH1

poultney_13_ASD_discovery_cases-case99HI0744A

Clinical Profile:

ASD case from AGRE (AGRE ID AU007504; NDAR ID NDAR_INVCU989WJU)

Cognitive Profile:

-

Poultney CS , et al. (2013)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown (likely multiplex/AGRE)
CNV Start: 195523690
CNV End: 195579463
CNV Size: 55774
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown (likely multiplex/AGRE)
Genome Build: GRCh38
Gene Content: RN7SL73P, PPP1R2, APOD

prasad_12_ASD_discovery_cases-case122686L

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: 196502163
CNV End: 196822333
CNV Size: 320171
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: APOD, ACAP2, PPP1R2

prasad_12_ASD_discovery_cases-case123422L

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: 197276356
CNV End: 197978100
CNV Size: 701745
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: PCYT1A, FBXO45, LRRC33, WDR53, CEP19, TM4SF19-TCTEX1D2, RNF168, ZDHHC19, OSTalpha, PIGX, TFRC, C3orf43, TM4SF19, LOC401109, TCTEX1D2, UBXN7, PAK2

prasad_12_ASD_discovery_cases-case126047

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: 195668849
CNV End: 195739218
CNV Size: 70370
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ATP13A3, FLJ34208

prasad_12_ASD_discovery_cases-case138645L

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: 195847835
CNV End: 195869640
CNV Size: 21806
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case76066

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: 198909674
CNV End: 198937189
CNV Size: 27516
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case91085L

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: 197537670
CNV End: 197561134
CNV Size: 23465
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: TM4SF19, TM4SF19-TCTEX1D2

prasad_12_ASD_discovery_cases-case99746

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: 195717607
CNV End: 195753225
CNV Size: 35619
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

prasad_12_ASD_discovery_cases-case99746

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: 195019470
CNV End: 195065221
CNV Size: 45752
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

quintela_17_DD/ID_discovery_cases-caseID_109

Clinical Profile:

Patient originally reported in Quintela et al., 2015b (P1 in that report)

Cognitive Profile:

-

Quintela I , et al. (2017)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 13 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195963356
CNV End: 197629463
CNV Size: 1666108
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not maternal)
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

quintela_17_DD/ID_discovery_cases-caseID_245

Clinical Profile:

Patient originally reported in Quintela et al., 2015b (P2 in that report)

Cognitive Profile:

-

Quintela I , et al. (2017)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 10 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 195991874
CNV End: 197617305
CNV Size: 1625432
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

quintela_17_DD/ID_discovery_cases-caseID_354

Clinical Profile:

Hypotonia, difficulties in motor skills, social interaction problems. Incomplete parental clinical history.

Cognitive Profile:

Intellectual disability

Quintela I , et al. (2017)
Primary Diagnosis: Intellectual disability

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 196808979
CNV End: 197933168
CNV Size: 1124190
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, RNU6-858P, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, FYTTD1, LRCH3, SENP5, MELTF, MELTF-AS1, BDH1, IQCG, DLG1

quintero-rivera_10_ASD_discovery_cases-patient1

Clinical Profile:

Diagnosis of autism at 5 yrs. Additional diagnosis of bipolar disorder with psychotic features at 10 yrs. Psychiatric symptoms: auditory hallucinations, anger rages, violence towards others. Developmental regression. Speech delay. Delayed walking. Age-appropriate fine motor skills, underdeveloped gross motor skills. Global Assessment of Functioning score: 30/100. Dysmorphic features: bilateral epicanthal folds, high nasal bridge, prominent metopic suture, micrognathia, asymmetrical face, brachy-dolicocpehaly, small mouth and chin with mandibular hypoplasia. Tapered fingers. Growth parameters: height, 139 cm (50-75th %ile); head circumference, 52.5 cm (50th %ile). Family history: father & paternal grandfather with a history of bipolar disorder, maternal cousin diagnosed with ADHD, aunt with anorexia, no psychiatric history in siblings.

Cognitive Profile:

Mental retardation

Quintero-Rivera F , et al. (2010)
Primary Diagnosis: Autism

Age: 10 yrs.

Gender: F
Primary Disorder Inheritence: Possible paternal inheritance of bipolar disorder

Family Profile: Simplex
CNV Start: 195982791
CNV End: 197611830
CNV Size: 1629040
Validation Description: FISH
Primary Disorder Inheritence: Possible paternal inheritance of bipolar disorder
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

quintero-rivera_10_ASD_discovery_cases-patient2

Clinical Profile:

Initial diagnosis of autism at 6 yrs confirmed at 9 yrs. Diagnosis of ADHD and failure to thrive at 7 yrs. Developed repetitive behaviors at 2 yrs. Behavioral and psychiatric features: self-injurious behaviors, anxiety, impulsiveness, nervousness, aggression sleep disturbances; behaviors treated with multiple medications. Delayed developmental milestones: walking and first words at 2 yrs., first sentences at 7 yrs. Delay in fine motor skills. Sensitivity to noises & touch. Hypotonia. Dystonic posturing. Scoliosis. Microcephaly. Dysmorphic features: left eye esotropia, ears with simple helices, dentition with poor enamel and mulitple cavities, facial asymmetry & droop, high nasal bridge, high-arched palate, long narrow face. Tapered fingers, slight finger camptodactyly, clinodactyly of toes, restricted flexion & extension of elbows. Abnormal skin pigmentation. Growth parameters: height, 171.4 cm (50-75th %ile); weight, 52 kg (25th %ile); head circumference, 53 cm (<5th %ile). Family history: no family history of autism or psychiatric disease.

Cognitive Profile:

Diagnosed with borderline mental retardation at 7 yrs. Wechsler Intelligence Test for Children (WISC-III) scores at 7 yrs.: full-scale IQ, 77; verbal, 74; performance IQ, 83. Leiter International Performance Scale-Revised score at 5 yrs.: full IQ, 72. Peabody Picture Vocabulary test at 14 yrs.: low-average range. Weakness in reading comprehension (2nd grade level).

Quintero-Rivera F , et al. (2010)
Primary Diagnosis: Autism

Age: 15 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 195729073
CNV End: 197832022
CNV Size: 2102950
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, MIR922, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, RUBCN, FYTTD1, LRCH3, MUC20-OT1, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

reinthaler_14_EP_discovery_cases-caseAVRE02

Clinical Profile:

Epilepsy phenotype: rolandic epilepsy.

Cognitive Profile:

-

Reinthaler EM , et al. (2014)
Primary Diagnosis: Epilepsy

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195733678
CNV End: 196369580
CNV Size: 635903
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: KIF3AP1, MIR6829, TNK2-AS1, RNU2-11P, RNU7-18P, TM4SF19-AS1, RNU6-910P, MUC20, MUC4, LINC01983, TNK2, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, MUC20-OT1, SLC51A, PCYT1A

roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase9

Clinical Profile:

Dysmorphism

Cognitive Profile:

-

Roberts JL , et al. (2013)
Primary Diagnosis: Learning disability (developmental delay/intellectual disability)

Age: 8 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 195963101
CNV End: 197631263
CNV Size: 1668163
Validation Description: BACs aCGH or FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

rosenfeld_10_ASD_discovery_cases-case15066

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 198615692
CNV End: 199230435
CNV Size: 614743
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: BDH1, KIAA0226, FYTTD1, LRCH3, IQCG, RPL35A, LMLN

rosenfeld_10_ASD_discovery_cases-case17184

Clinical Profile:

NA

Cognitive Profile:

NA

Rosenfeld JA , et al. (2010)
Primary Diagnosis: ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 194057893
CNV End: 196496805
CNV Size: 2438912
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: MB21D2, HRASLS, ATP13A5, ATP13A4, OPA1, HES1, CPN2, LRRC15, GP5, ATP13A3, TMEM44, LSG1, FAM43A, XXYLT1, ACAP2

sagar_13_ASD/ID_discovery_cases-case1

Clinical Profile:

Case was previousy described in Sanders et al. 2011 CNV report (sanders_11_ASD_discovery_cases-11079.p1). Diagnosis of autism based on meeting criteria on ADOS and ADI-R following enrollment in SSC study (case previoulsy diagnosed with PDD-NOS around age of 4 years). Birth/neonatal history: uncomplicated pregnancy; vaginal birth at gestational age of 40 weeks; birth weight 50th %ile, birth length 95th %ile; difficulties regulating temperature at birth; gastroesophageal reflux as infant; hypotonia and difficulty bearing weight at 6-9 months of age; abnormal movements of arms and legs; diagnosed with possible phenylketonuria and possible Tourette's syndrome. Language and communication evaluation: Peabody Picture Vocabulary Test 4 (PPVT4) administrated to assess receptive language (standard score of 87; mean 100, SD 15). Motor and musculoskeletal evaluation: choreoathetoid at age of 2 years; evaluation by pediatric neurologist at 2 years of age noted mild asymmetries on the right including abnormal gait, brisker reflexes on right, upgoing toe on right, tendency to circumduct right foot during gait testing, some delay of right compared to left sided smile. Behavioral/psychiatric evaluation: tics, obsessive compulsive behaviors, and stereotyped movements at 2 years of age; diagnosis of Sydenham chorea and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) considereed at around 4 years of age (due to worsening of abnormal movements and tics with pharyngitis); chicken pox at age of 5 years reported to have led to onset of childhood psychosis; history of psychotic symptoms included auditory and visual hallucinations. Other features: severity of movement disorder led to fractures of ulna and at least one toe before age of 5 years; severe presentation of antipsychotic withdrwaral dyskinesia noted on examination at age of 16 years (after many medication trials, treatment with loxapine led to improvement; exacerbation of symptoms at age of 16 years led to discontinuation of loxapine and subsequent withdrawal dyskinesia); Abnormal Involuntary Movements Scale (AIMS) score of 25 (max score of 40). Brain imaging: normal brain MRI (at age of 2 years). Dysmorphic features: dysmorphic pinnae, wide and high nasal bridge, pectus excavatum. Growth parameters: not reported. Family history: nonconsanguienous healthy parents; family history significant for bipolar disorder in maternal aunt.

Cognitive Profile:

Intellectual disability; full-scale IQ of 53 on Differential Abilities Scales (DAS) 2nd edition (mean 100, SD 15); overall adaptive behavior composite standard score of 64 on Vineland II (mean 100, SD 15).

Sagar A , et al. (2013)
Primary Diagnosis: Autism

Age: 16 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 196013531
CNV End: 197590232
CNV Size: 1576702
Validation Description: FISH, aCGH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR06-132

Clinical Profile:

Diagnosis of polymicrogyria (PMG).

Cognitive Profile:

-

Sajan SA , et al. (2013)
Primary Diagnosis: PMG

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 197842688
CNV End: 197978058
CNV Size: 135371
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-858P, LRCH3, RPL35A, LMLN, IQCG

sanders_11_ASD_discovery_cases-11039.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 36; non-verbal IQ, 43; verbal IQ 29

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11079.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 195949805
CNV End: 197639761
CNV Size: 1689957
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De Novo
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU7-18P, TM4SF19-AS1, RNU6-910P, RNU6-1279P, RN7SL434P, RN7SL738P, UBXN7-AS1, RPS29P3, LINC01063, RNU6-646P, RNU4-89P, RNU6-42P, NCBP2-AS1, NCBP2-AS2, MIR4797, DLG1-AS1, LINC02012, SDHAP1, TFRC, LINC00885, ZDHHC19, TCTEX1D2, TM4SF19-TCTEX1D2, TM4SF19, UBXN7, SMCO1, WDR53, FBXO45, NRROS, PIGX, CEP19, PAK2, NCBP2, PIGZ, RPSAP69, SLC51A, PCYT1A, RNF168, SENP5, MELTF, MELTF-AS1, BDH1, DLG1

sanders_11_ASD_discovery_cases-11099.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 83; non-verbal IQ, 89; verbal IQ, 77

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11108.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.1

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 197838124
CNV End: 197921554
CNV Size: 83431
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: RNU6-858P, LRCH3, IQCG

sanders_11_ASD_discovery_cases-11114.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.8

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11133.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 17

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 197985888
CNV End: 198111391
CNV Size: 125504
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: RNU6-621P, LMLN-AS1, RNU6-821P, FRG2FP, LMLN, ANKRD18DP

sanders_11_ASD_discovery_cases-11135.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.3

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11158.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11167.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11202.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 11.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (trio)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (trio)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11270.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 198072067
CNV End: 198137592
CNV Size: 65526
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: FRG2FP, TUBB8P8, ANKRD18DP

sanders_11_ASD_discovery_cases-11277.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.2

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11289.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 82; non-verbal IQ, 98; verbal IQ, 62

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11304.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 53; non-verbal IQ, 61; verbal IQ, 47

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 5.8

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 196473866
CNV End: 196476395
CNV Size: 2530
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11336.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 10.4

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 197823908
CNV End: 197829263
CNV Size: 5356
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11375.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11376.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193422559
CNV Size: 3873
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11412.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 107; non-verbal IQ, 119; verbal IQ, 85

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 8.2

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex (quad-proband matched)
CNV Start: 193418687
CNV End: 193430105
CNV Size: 11419
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex (quad-proband matched)
Genome Build: GRCh38
Gene Content: -

sanders_11_ASD_discovery_cases-11447.p1

Clinical Profile:

NA

Cognitive Profile:

Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82

Sanders SJ , et al. (2011)
Primary Diagnosis: Autism

Age: 6.6