Copy Number Variants / 15q13.3

15q13.3

Case population data
Control population data
Type
Deletion-Duplication
Average Length
440129
Range
30938215-32914140
Associated Human Genes
CHRNA7, FAN1, OTUD7A, TRPM1
Associated Mouse Models
M_DF(7QC)_1_HT, M_DF(7QC)_2_HT, M_DF(7QC)_2_HT_OTUD7A
Autism Reports
64
Populations
77 (71 case / 6 control)
Individuals
411 (327 case / 84 control)
Summary

Individuals with microdeletions at this locus have an increased risk for a wide range of clinical features, including autism. The CHRNA7 gene within the 15q13.3 locus may be clinically relevant in ASD pathogenesis.

Reports related to 15q13.3 (64 Reports)
# Type Title Author, Year
1 Major Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Christian SL , et al. (2008)
2 Major A 15q13.3 microdeletion segregating with autism. Pagnamenta AT , et al. (2008)
3 Major Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Ben-Shachar S , et al. (2009)
4 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
5 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
6 Minor Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Nord AS , et al. (2011)
7 Minor Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
8 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)
9 Major Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. Celestino-Soper PB , et al. (2011)
10 Major Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental... Mikhail FM , et al. (2011)
11 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
12 Minor Rare deletions at the neurexin 3 locus in autism spectrum disorder. Vaags AK , et al. (2012)
13 Major Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Leblond CS , et al. (2012)
14 Major Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. Hoppman-Chaney N , et al. (2012)
15 Minor Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Bartnik M , et al. (2012)
16 Minor Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? Van Den Bossche MJ , et al. (2012)
17 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
18 Major Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. Winiowiecka-Kowalnik B , et al. (2012)
19 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
20 Minor Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. Handrigan GR , et al. (2013)
21 Major 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)
22 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
23 Minor Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
24 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
25 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
26 Major High rate of disease-related copy number variations in childhood onset schizophrenia. Ahn K , et al. (2013)
27 Major Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities. Melchior L , et al. (2013)
28 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
29 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
30 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)
31 Major Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL , et al. (2013)
32 Major Case report: Neuronal migration disorder associated with chromosome 15q13.3 duplication in a boy with autism and seizures. Beal JC (2013)
33 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)
34 Major CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. Soler-Alfonso C , et al. (2014)
35 Minor Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome. Bertelsen B , et al. (2014)
36 Major Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Egger G , et al. (2014)
37 Minor Outfoxed by RBFOX1-a caution about ascertainment bias. Kamien B , et al. (2014)
38 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
39 Major Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Lowther C , et al. (2014)
40 Minor Copy number variation in Han Chinese individuals with autism spectrum disorder. Gazzellone MJ , et al. (2014)
41 Major Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. Moreira DP , et al. (2014)
42 Minor Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014)
43 Major Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. Bacchelli E , et al. (2015)
44 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
45 Major Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... Shin S , et al. (2015)
46 Minor Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. Oikonomakis V , et al. (2016)
47 Major The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Ziats MN , et al. (2016)
48 Minor 15q13.3 duplication in two patients with childhood-onset schizophrenia. Zhou D , et al. (2016)
49 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
50 Major Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Fry AE , et al. (2016)
51 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)
52 Minor Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. Firouzabadi SG , et al. (2016)
53 Major The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. Gillentine MA , et al. (2016)
54 Major Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes. Lintas C , et al. (2017)
55 Minor Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. Ghasemi Firouzabadi S , et al. (2017)
56 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
57 Minor Copy Number Variations independently induce Autism Spectrum Disorder. Xie Y , et al. (2017)
58 Minor Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. Sansovi I , et al. (2017)
59 Major High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. Chen CH , et al. (2017)
60 Minor Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. Hnoonual A , et al. (2017)
61 Minor Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder. Li SJ , et al. (2018)
62 Major Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c... Zhou WZ , et al. (2019)
63 Minor Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019)
64 Minor Comorbidities associated with genetic abnormalities in children with intellectual disability Chen JS et al. (2021)
Show all Case Details Show all Cohort Details

15q13.3

Description:

Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)

Diagnosis:

ASD

Ben-Shachar S , et al. (2009)
Cohort Size: N/A

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1600000

Deletion: 5
Duplication: 0

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, Agilent 44K
Software: Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
Algorithm: ADM-2
Geographical Ancestry: -

15q13.3

Description:

Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)

Diagnosis:

Developmental delay, mental retardation, dysmorphic features, congenital anomalies, ASD, or general suspicion of a chromosomal anomaly

Ben-Shachar S , et al. (2009)
Cohort Size: 8200

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1600000

Deletion: 13
Duplication: 0

Total CNV: 13
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, Agilent 44K
Software: Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
Algorithm: ADM-2
Geographical Ancestry: -

15q13.3

Description:

Samples from cases referred from 2/2004 to 5/2008 (Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)

Diagnosis:

Developmental delay, mental retardation, dysmorphic features, congenital anomalies, or general suspicion of a chromosomal anomaly

Ben-Shachar S , et al. (2009)
Cohort Size: N/A

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1600000

Deletion: 8
Duplication: 0

Total CNV: 8
Discovery Method:

aCGH

Validation Method:

FISH

Platform: BACs aCGH, Agilent 44K
Software: Feature Extraction Software (v 9.5.3.1), Agilent CGH-Analytics V3.4
Algorithm: ADM-2
Geographical Ancestry: -

15q13.3

Description:

102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders

Diagnosis:

Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.

Bartnik M , et al. (2012)
Cohort Size: 102

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 108000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
Software: BCM web-based software, IMiD-web2py
Algorithm: -
Geographical Ancestry: Poland

15q13.3

Description:

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

Diagnosis:

Diagnosis of childhood onset schizophrenia (based on meeting DSM-IIR/DSM-IV criteria for schizophrenia with onset of psychosis before age of 13 years); medical or neurological disorders, or IQ under 70, were exclusionary criteria.

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 475000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

array SNP, aCGH, qPCR

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

15q13.3

Description:

4-year-old male patient born to parents with no family history of seizures, autism, mental retardation, or other neurological impairments.

Diagnosis:

Case presented with autism, speech delay, and epilepsy/seizures

Beal JC (2013)
Cohort Size: 1

Age Min: 48
Age Max: 48
Average: 48

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

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

15q13.3

Description:

Unrelated Tourette syndrome (TS) patients recruited through the Herlev Tourette Clinic (Denmark)

Diagnosis:

Tourette syndrome (TS) with additional comorbidities, including ADHD, OCD, and ASD

Bertelsen B , et al. (2014)
Cohort Size: 188

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 420000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

15q13.3

Description:

ASD cases screened for 15q13.3 CNVs from 133 families recruited at the Stella Maris Clinical Research Institute for Child and Adolescent Neuropsychiatry (Calambrone, Pisa, Italy)

Diagnosis:

ASD diagnosis based on ADI-R and ADOS

Bacchelli E , et al. (2015)
Cohort Size: 135

Age Min: 156
Age Max: 156
Average: 156

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

qPCR

Validation Method:

Solid phase hybridization (Illumina 1M-Duo)

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Italian

15q13.3

Description:

ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.

Diagnosis:

ASD

Celestino-Soper PB , et al. (2011)
Cohort Size: 99

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 16891

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

Solid phase hybridization (Illumina 1M SNP)

Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -

15q13.3

Description:

Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)

Diagnosis:

ASD

Christian SL , et al. (2008)
Cohort Size: 397

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 372000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, microsatellite, qPCR

Platform: RPCI 19K BAC microarray
Software: -
Algorithm: -
Geographical Ancestry: 235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown

15q13.3

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: 489130

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR

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

15q13.3

Description:

Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.

Diagnosis:

All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest

Chen CH , et al. (2017)
Cohort Size: 335

Age Min: -
Age Max: -
Average: -

Male: 25
Female: -
Unknown: 75
CNV Size: 400000

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

RT-qPCR

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

15q13.3

Description:

Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019

Diagnosis:

Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.

Chen JS et al. (2021)
Cohort Size: 61

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 419241

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: CytoOne Array (Phalanx Biotech)
Software: MATLAB v.R2009a
Algorithm: CBS
Geographical Ancestry: Taiwan

15q13.3

Description:

ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).

Diagnosis:

Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories

Egger G , et al. (2014)
Cohort Size: 73

Age Min: 276
Age Max: 276
Average: 276

Male: 100
Female: -
Unknown: -
CNV Size: 445000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR

Platform: Affymetrix 6.0
Software: -
Algorithm: Birdsuite, iPattern, Affymetrix Genotyping Console
Geographical Ancestry: 68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian

15q13.3

Description:

Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study

Diagnosis:

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

Deciphering Developmental Disorders Study (2014)
Cohort Size: 1133

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 853498

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, WES

Validation Method:

None

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

15q13.3

Description:

Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales

Diagnosis:

All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)

Fry AE , et al. (2016)
Cohort Size: 80

Age Min: 252
Age Max: 276
Average: 264

Male: 100
Female: -
Unknown: -
CNV Size: 494000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH, solid phase hybridization

Validation Method:

Solid phase hybridization (Illumina)

Platform: Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
Software: Illumina BlueFuse Multi v3.1
Algorithm: PennCNV
Geographical Ancestry: 78 White British, 1 South Asian, 1 Mixed White/South Asian

15q13.3

Description:

Sporadic ASD cases born to unrelated parents with no family history of ASD, with an additional ASD case with an affected father

Diagnosis:

ASD cases met DSM5 criteria and were diagnosed by pediatric neurologists specializing in autism

Firouzabadi SG , et al. (2016)
Cohort Size: 15

Age Min: 84
Age Max: 84
Average: 84

Male: 100
Female: -
Unknown: -
CNV Size: 445000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: BlueGnome CytoChip ISCA 8x60K v2.0
Software: BlueFuse Multi v3
Algorithm: -
Geographical Ancestry: Iranian

15q13.3

Description:

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

Diagnosis:

All cases diagnosed with ASD

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 16497

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

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

15q13.3

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: 67
Female: 33
Unknown: -
CNV Size: 436756

Deletion: 0
Duplication: 3

Total CNV: 3
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: -

15q13.3

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: -
Age Max: -
Average: -

Male: -
Female: 1
Unknown: 99
CNV Size: 440000

Deletion: 7
Duplication: 130

Total CNV: 137
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

15q13.3

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: 24402

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

15q13.3

Description:

18 patients from 17 families evaluated by providers at Texas Children's Hospital and tested by clinical chromosomal microarray (CMA) by the Baylor Genetics Laboratory (BGL) or Signature Genomic Laboratory for CHRNA7 duplications

Diagnosis:

7/17 cases met criteira for ASD based on clinical impression; 11/18 cases presented with ADHD. Cognitive and behavioral testing included the Differential Ability Scales, Second Edition (DAS-II), the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavioral Assessment for Children, Second Edition (BASC-2).

Gillentine MA , et al. (2016)
Cohort Size: 18

Age Min: 60
Age Max: 168
Average: 109.5

Male: 69
Female: 31
Unknown: -
CNV Size: 441000

Deletion: 0
Duplication: 16

Total CNV: 16
Discovery Method:

CMA

Validation Method:

MLPA

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

15q13.3

Description:

Sporadic Iranian ASD cases with no family history of ASD

Diagnosis:

Cases met DSM-5 criteria for ASD as diagnosed by pediatric neurologists specializing in autism; case also had intellectual disability with one or more additional clinical features

Ghasemi Firouzabadi S , et al. (2017)
Cohort Size: 50

Age Min: 84
Age Max: 84
Average: 84

Male: 100
Female: -
Unknown: -
CNV Size: N/A

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

MLPA

Validation Method:

None

Platform: MLPA P036, P070, P343, and P396 kits
Software: -
Algorithm: -
Geographical Ancestry: Iranian

15q13.3

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 36303

Deletion: 5
Duplication: 0

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

15q13.3

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: 615181

Deletion: 0
Duplication: 3

Total CNV: 3
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

15q13.3

Description:

Probands from a database of >15,000 patients tested in the Mayo Clinic Cytogenetics Laboratory from 2008-2011.

Diagnosis:

Developmental delay, intellectual disability, ASD, ADHD, and/or other non-neuropsychiatric features

Hoppman-Chaney N , et al. (2012)
Cohort Size: 10

Age Min: 9
Age Max: 84
Average: 40.625

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

Deletion: 10
Duplication: 0

Total CNV: 10
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Agilent 4x44 K or Agilent 4x180K
Software: Agilent DNA Analytics V4.0
Algorithm: -
Geographical Ancestry: NA

15q13.3

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: 6
Age Max: 6
Average: 6

Male: 100
Female: -
Unknown: -
CNV Size: 409512

Deletion: 1
Duplication: 0

Total CNV: 1
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

15q13.3

Description:

Three patients with RBFOX1 CNVs seen in clinical genetics unit (New South Wales, Australia)

Diagnosis:

All three cases met DSM-IV-TR criteria for ASD (autistic disorder in two cases, PDD-NOS in one case).

Kamien B , et al. (2014)
Cohort Size: 3

Age Min: 60
Age Max: 60
Average: 60

Male: 100
Female: -
Unknown: -
CNV Size: 444000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: BlueGnome 60K ISCA array
Software: BlueMulti v.26
Algorithm: -
Geographical Ancestry: N/A

15q13.3

Description:

Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)

Diagnosis:

68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.

Hnoonual A , et al. (2017)
Cohort Size: 114

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 25000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Infinium CytoSNP-850K v1.1 BeadChip
Software: BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
Algorithm: -
Geographical Ancestry: Thai

15q13.3

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 537289

Deletion: 2
Duplication: 8

Total CNV: 10
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

15q13.3

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: 33
Female: 67
Unknown: -
CNV Size: 81000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

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

15q13.3

Description:

Probands from the Simons Simplex Collection

Diagnosis:

Diagnosis of ASD

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

Age Min: -
Age Max: -
Average: -

Male: 75
Female: 25
Unknown: -
CNV Size: 81000

Deletion: 0
Duplication: 7

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

15q13.3

Description:

ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.

Diagnosis:

171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.

Leblond CS , et al. (2012)
Cohort Size: 260

Age Min: 132.6
Age Max: 132.6
Average: 132.6

Male: 100
Female: -
Unknown: -
CNV Size: 496055

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina Human 1M-Dup BeadChip
Software: -
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Caucasian

15q13.3

Description:

Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.

Diagnosis:

1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.

Leblond CS , et al. (2012)
Cohort Size: 2

Age Min: 132.6
Age Max: 132.6
Average: 132.6

Male: 100
Female: -
Unknown: -
CNV Size: 495448

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (Agilent 1M)

Platform: Illumina 1M SNP array
Software: -
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: 1 Canadian, 1 French

15q13.3

Description:

ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children

Diagnosis:

Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.

Lintas C , et al. (2017)
Cohort Size: 41

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 466297

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

Validation by visual inspection, RT-PCR, or PCR

Platform: Agilent Human Genome CGH SurePrint G3 4x180K
Software: Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
Algorithm: ADM-2
Geographical Ancestry: Italy

15q13.3

Description:

Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.

Diagnosis:

ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.

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

Age Min: 180
Age Max: 180
Average: 180

Male: 100
Female: -
Unknown: -
CNV Size: 61250

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

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

15q13.3

Description:

Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics

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: 100
Female: -
Unknown: -
CNV Size: 444868

Deletion: 0
Duplication: 1

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

15q13.3

Description:

Adults with 15q13.3 deletions; one case from a cohort of 459 adults with schizophrenia (case 1); two adult probands from a collection of 11,150 clinical samples submitted for clinical microarray at the Hospital for Sick Children (cases 5 and 7); and a sample submitted to the Hospital for Sick Children for parental testing following the birth of an affected child (case 6).

Diagnosis:

All four cases present with some degree of developmental delay/intellectual disability or learning disability. Additional diagnoses/phenotypes include schizophrenia (n=1), epilepsy (n=1), ADHD (n=1), major depression (n=2), and anxiety (n=2).

Lowther C , et al. (2014)
Cohort Size: 4

Age Min: 468
Age Max: 780
Average: 572

Male: -
Female: 100
Unknown: -
CNV Size: 1690000

Deletion: 3
Duplication: 0

Total CNV: 3
Discovery Method:

Array SNP, N/A

Validation Method:

FISH

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

15q13.3

Description:

Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research

Diagnosis:

Diagnosis of ASD made according to DSM-IV

Li SJ , et al. (2018)
Cohort Size: 13

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 484088

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Low-coverage WGS

Validation Method:

None

Platform: Illumina HiSeq 2000 or 2500 analyzers
Software: -
Algorithm: PSCC
Geographical Ancestry: Chinese

15q13.3

Description:

Patients referred for clinical array CGH testing between January 2009 & December 2010 for various neurodevelopmental phenotypes (Univ. of Alabama-Birmingham)

Diagnosis:

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

Park EH , et al. (2011)
Cohort Size: 1200

Age Min: 48
Age Max: 48
Average: 48

Male: -
Female: 100
Unknown: -
CNV Size: 537000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: Agilent 4 X 44K, Agilent 2 X 105K
Software: Feature Extraction V9.5, DNA Analytics V4.0
Algorithm: -
Geographical Ancestry: NA

15q13.3

Description:

Three affected brothers from a family with Tourette syndrome and comorbidities

Diagnosis:

Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria in all three cases; two cases with additional diagnoses of OCD, one case with additional diagnosis of ADHD

Melchior L , et al. (2013)
Cohort Size: 3

Age Min: 102
Age Max: 102
Average: 102

Male: 100
Female: -
Unknown: -
CNV Size: 433000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

qPCR

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

15q13.3

Description:

ASD cases ascertained at the "Centro de Pesquisa sobre o Genoma Humano e Celulas Tronco" (CEGH-Cel), IB-USP, for CNVs affecting 15q13.3, 16p11.2, and 22q13.33 regions

Diagnosis:

ASD cases without (N=453) or with epilepsy (N=78). Diagnosis of ASD according to DSM-IV crtieria by psychiatrists from Institutio de Psiquiatria, Hospital das Clinicas-Universidade de Sao Paulo (IPq-USP); whenever possible, an interview based on ADI-R and CARS was applied. Diagnosis of epilepsy based on occurrence of at least two unprovoked seizure episodes occurring more than 24 hours apart.

Moreira DP , et al. (2014)
Cohort Size: 531

Age Min: 144
Age Max: 192
Average: 168

Male: 100
Female: -
Unknown: -
CNV Size: 555000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

MLPA

Validation Method:

Array SNP

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Ethnically-mixed Brazilian

15q13.3

Description:

Autism Genome Project (AGP) cohort of 525 probands and their parents. Multiplex:simplex ratio of 2:1.

Diagnosis:

ASD

Pagnamenta AT , et al. (2008)
Cohort Size: 525

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2000000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (Agilent 44K)

Platform: Illumina Human 1M BeadChip SNP array
Software: BeadStudio
Algorithm: QuantiSNP
Geographical Ancestry: -

15q13.3

Description:

Half-siblings of CNV-positive proband from discovery case cohort

Diagnosis:

ASD

Pagnamenta AT , et al. (2008)
Cohort Size: 2

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2000000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

aCGH (Agilent 44K)

Platform: Illumina Human 1M BeadChip SNP array
Software: BeadStudio
Algorithm: QuantiSNP
Geographical Ancestry: Caucasian

15q13.3

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 39198

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

15q13.3

Description:

Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 489130

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

N/A

Platform: SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
Software: -
Algorithm: -
Geographical Ancestry: N/A

15q13.3

Description:

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

Diagnosis:

Cases assessed for ASD according to DSM-IV behavioral criteria

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

Age Min: 36
Age Max: 216
Average: 126

Male: -
Female: 100
Unknown: -
CNV Size: 824800

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

15q13.3

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 75
Female: 25
Unknown: -
CNV Size: 540422

Deletion: 0
Duplication: 4

Total CNV: 4
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

15q13.3

Description:

ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)

Diagnosis:

Cases classified according to ADOS and ADI-R

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 510730

Deletion: 0
Duplication: 2

Total CNV: 2
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

15q13.3

Description:

Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 36304

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

15q13.3

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: 57
Female: 43
Unknown: -
CNV Size: 81004

Deletion: 2
Duplication: 3

Total CNV: 5
Discovery Method:

WES

Validation Method:

None

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

15q13.3

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: 12
Age Max: 180
Average: 86

Male: 67
Female: 33
Unknown: -
CNV Size: 443294

Deletion: 0
Duplication: 6

Total CNV: 6
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

15q13.3

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: 395473

Deletion: 3
Duplication: 1

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

FISH

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

15q13.3

Description:

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

Diagnosis:

Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 486123

Deletion: 0
Duplication: 5

Total CNV: 5
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

15q13.3

Description:

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

Diagnosis:

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

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

Age Min: 324
Age Max: 324
Average: 324

Male: 100
Female: -
Unknown: -
CNV Size: 548000

Deletion: 0
Duplication: 1

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

15q13.3

Description:

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

Diagnosis:

ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 3173

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

-

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

15q13.3

Description:

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

Diagnosis:

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

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

Age Min: 96
Age Max: 108
Average: 102

Male: 100
Female: -
Unknown: -
CNV Size: 445000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

15q13.3

Description:

Affected family members in three generations affected with various neuropsychiatric phenotypes and cognitive impairment

Diagnosis:

Two twin brothers (III-2 and III-3) diagnosed with PDD-NOS, anxiety disorder, dysthymia, and borderline intellectual functioning; their mother (II-3) with a history of developmental delay and diagnosed with bipolar disorder, anxiety disorder, attention deficit disorder, learning disability, and seizures; and their maternal grandfather (I-1), whose clinical information was significant for alcoholism, drug addiction, and abusive behaviors to family members.

Soler-Alfonso C , et al. (2014)
Cohort Size: 4

Age Min: 120
Age Max: 444
Average: 228

Male: 75
Female: 25
Unknown: -
CNV Size: 650400

Deletion: 0
Duplication: 8

Total CNV: 8
Discovery Method:

aCGH, FISH

Validation Method:

FISH, aCGH (NimbleGen 4.2M, Agilent 4x44K), qPCR

Platform: CMA V8.1 OLIGO
Software: -
Algorithm: -
Geographical Ancestry: Caucasian

15q13.3

Description:

Patients with normal karyotype referred for further genetic testing from March 2012-April 2014

Diagnosis:

34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID

Shin S , et al. (2015)
Cohort Size: 96

Age Min: 84
Age Max: 84
Average: 84

Male: 100
Female: -
Unknown: -
CNV Size: 444000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

MLPA

Validation Method:

Array SNP (Affymetrix CytoScan 750K)

Platform: SALSA MLPA P245 Microdeletion Syndromes probemix
Software: GeneMarker (SoftGenetics); Affymetrix ChAS v2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean

15q13.3

Description:

Replication cohort consisting of patients referred to the Mayo Clinic

Diagnosis:

Autism or pervasive developmental disorder (PDD)

Vaags AK , et al. (2012)
Cohort Size: 1796

Age Min: 42
Age Max: 42
Average: 42

Male: 100
Female: -
Unknown: -
CNV Size: 273113

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 44K & 244K
Software: -
Algorithm: -
Geographical Ancestry: NA

15q13.3

Description:

Individuals with BPD from Belgium, individuals with BPD originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with BPD contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 72
Female: 28
Unknown: -
CNV Size: 229000

Deletion: 0
Duplication: 2

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: 264 from Belgium, 305 from Sweden, 107 from Scotland

15q13.3

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 72
Female: 28
Unknown: -
CNV Size: 1071000

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

MAQ

Validation Method:

None

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

15q13.3

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 72
Female: 28
Unknown: -
CNV Size: 229000

Deletion: 0
Duplication: 2

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: Scotland

15q13.3

Description:

Individuals with SCZ from Belgium, individuals with SCZ originating from a geographically isolated population of the County of Vasterbotten (Northern Sweden), and Northwestern European individuals with SCZ contacted through inpatient and outpatient services of hospitals in Aberdeen and Edinbergh, Scotland.

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 72
Female: 28
Unknown: -
CNV Size: 1071000

Deletion: 1
Duplication: 6

Total CNV: 7
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

15q13.3

Description:

ASD patients from 132 simplex and 13 multiplex families of Polish descent

Diagnosis:

Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.

Winiowiecka-Kowalnik B , et al. (2012)
Cohort Size: 145

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 200000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

Platform: OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
Software: BCM web-based software, custom-designed IMiD-web2py software
Algorithm: -
Geographical Ancestry: Polish

15q13.3

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: 400388

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

15q13.3

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: 2370000

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

15q13.3

Description:

ASD probands referred to the Clinical Genetics Service for genetic testing

Diagnosis:

Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)

Xie Y , et al. (2017)
Cohort Size: 64

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 440507

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)

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

15q13.3

Description:

Patients with 15q13.3 microdeletions spanning at least BP4-BP5 identified retrospectively by review of CMA results performed in the Baylor Medical Genetics Laboratory or Signature Genomics Laboratories (prior to its closure in 2014).

Diagnosis:

Original reasons for referral of cases included developmental delay (DD; n=5), intellectual disability (ID; n=9), ADHD (n=4), ASD (n=3), and depression (n=2). Cognitive and behavioral testing involved usage of the Differential Ability Scales-II; the Autism Diagnostic Interview-Revised (ADI-R); the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2); the Adaptive Behavior Assessment System, Second Edition (ABAS-II); and the Behavioral Assessment for Children, Second Edition (BASC-2).

Ziats MN , et al. (2016)
Cohort Size: 18

Age Min: 144
Age Max: 216
Average: 167.2

Male: 73
Female: 27
Unknown: -
CNV Size: N/A

Deletion: 15
Duplication: 0

Total CNV: 15
Discovery Method:

CMA

Validation Method:

MLPA

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

15q13.3

Description:

Probands diangosed with childhood-onset schizophrenia recruited nationally as part of an ongoing longitudinal study

Diagnosis:

Childhood-onset schizophrenia (SCZ); probands met criteria for schizophrenia in the DSM-IIIR/DSM-IV before the age of 13 years.

Zhou D , et al. (2016)
Cohort Size: 136

Age Min: 156
Age Max: 384
Average: 270

Male: 50
Female: 50
Unknown: -
CNV Size: 600200

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

N/A

Validation Method:

None

Platform: N/A
Software: CNVision
Algorithm: PennCNV, QuantiSNP, GNOSIS
Geographical Ancestry: N/A

15q13.3

Description:

ASD probands from families recruited from training centers in Beijing and Tsingdao, China

Diagnosis:

Cases were diagnosed for ASD by ADI-R and ADOS

Zhou WZ , et al. (2019)
Cohort Size: 539

Age Min: 33
Age Max: 62
Average: 49.666666666667

Male: 100
Female: -
Unknown: -
CNV Size: 142000

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

Targeted exome sequencing

Validation Method:

qPCR, solid phase hybridization

Platform: Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
Software: XHMM v.1.0
Algorithm: -
Geographical Ancestry: Han Chinese
Show all Case Details Show all Cohort Details

ahn_13_SCZ_discovery_cases-NSB_ID1546

Clinical Profile:

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

Cognitive Profile:

IQ 70

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 32159287
CNV End: 32541458
CNV Size: 382172
Validation Description: array SNP, aCGH, and/or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, ULK4P1, LINC02256, CHRNA7

ahn_13_SCZ_discovery_cases-NSB_ID498

Clinical Profile:

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

Cognitive Profile:

IQ 70

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 32159287
CNV End: 32633875
CNV Size: 474589
Validation Description: Validation based on familial presence of CNV
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, RN7SL286P, ULK4P1, LINC02256, GOLGA8N, CHRNA7, ARHGAP11A

bacchelli_15_ASD_discovery_cases-case3474_3

Clinical Profile:

Diagnosis of autism based on meeting ADI-R and ADOS criteria. Birth and neonatal history: no exposure of history of alcohol, tobacco, or drug abuse during pregnancy; born at term by C-section; birth weight of 3550 g (50th %ile) and length of 50 cm (50th %ile); breast-fed with good suction. Developmental milestones: sat unaided at age of 8 months, started walking independently at 16 months; babbling noted at age of 9 months, pronounced first words at 12 months; regression of language skills at age 18 months associated with refusal of physical contact, selective feeding, and hyperactivity. Language and communication evaluation: able to pronounce only single words with reduced gesture repertoire; limited comprehension. Epilepsy/seizures: developed complex partial seizures with secondary generalization at age of 13 years. EEG: reported to be normal at age of 5 years 5 months. Brain imaging: brain MRI reported to be normal. Dysmorphic features: bilateral epicanthal folds, broad-hypoplastic nasal bride, prominent digit pads. Growth parameters: weight of 26 kg (97th %ile), height of 114 cm (50th-75th %ile), and OFC of 55.5 cm (>90th %ile) at age of 5 years 5 months. Family history: only child of healthy non-consanguineous parents; paternal grandfather's sister affected by intellectual disability; paternal grandfather's brother had speech delay.

Cognitive Profile:

Moderate cognitive impairment

Bacchelli E , et al. (2015)
Primary Diagnosis: Autism

Age: 13 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Possible multi-generational
CNV Start: 31713145
CNV End: 32223772
CNV Size: 510628
Validation Description: Solid phase hybridization (Illumina 1M-Duo)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

bartnik_12_EP_discovery_cases-case23

Clinical Profile:

Age of onset of epilepsy: 3 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME) with absence seizures with eyelid myoclonia and generalized tonic-clonic seizures (GTCS). Parental phenotype: unknown.

Cognitive Profile:

Normal IQ

Bartnik M , et al. (2012)
Primary Diagnosis: Epilepsy

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 32003935
CNV End: 32112155
CNV Size: 108221
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

beal_13_ASD_discovery_cases-case1

Clinical Profile:

Birth/neonatal history: product of full term gestation delivered via repeat cesarian section; no complications with pregnancy or delivery. Developmental milestones: speech delay; first words around 1 year of age, speaking in multiple word phrases at age of 3 years. Behavioral/psychiatric evaluation: failed to engage socially with other children his age; inappropriately affectionate towards adults, even those he did not know; poor eye contact; repeatedly hugged examiner, but did not speak to the examiner or answer questions; no echolalia. Epilepsy/seizures: three reported seizures; first event described as a 5-minute generalized convulsion, patient found to be febrile and treated with antibiotics for sinusitis; second seizure (generalized convulsion) reportedly resolved after 2 minutes, but then recurred about 2 hours later and last approximately 5 minutes, patient again found to be febrile and was diagnosed with upper respiratory tract infection; third seizures (focal) occurred more than a year later, described as slumping to the right and shaking of right arm, lasting about 2 minutes. EEG: initial routine EEG showed rare right parietal sharp waves; subsequent monitoring with continuous EEG for 2 days demonstrated 3- to 4-Hz sharp wave and slow wave discharges independently over both hemispheres, right greater than left; no seizures were captured. Brain imaging: brain MRI significant for pachygyria and associated subcortical band heterotopia in the posterior frontal and temporal lobes and in the parietal and occipital lobes. Additional medical history: no significant medical history prior to presentation of symptoms. Family history: no family history of seizures, autism, mental retardation, or other neurologic impairments; parents declined genetic testing.

Cognitive Profile:

-

Beal JC (2013)
Primary Diagnosis: Autism and epilepsy

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: N/A
CNV End: N/A
CNV Size: 500000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

ben-shacher_09_ASD_discovery_cases-caseF12-1

Clinical Profile:

Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%

Cognitive Profile:

IQ 70

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Autism

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -

ben-shacher_09_ASD_discovery_cases-caseF12-2

Clinical Profile:

Moderate language delay, seizures unknown, implusive, ADHD, mood disorder, nystagmus; weight <5%, height 5%, FOC 2%

Cognitive Profile:

IQ 70

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Autism

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -

ben-shacher_09_ASD_discovery_cases-caseF2-1

Clinical Profile:

Mild language delay, no seizures, ADHD; weight 95%, height >97%, FOC 90%

Cognitive Profile:

IQ 82

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Asperger

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_ASD_discovery_cases-caseF8-1

Clinical Profile:

Moderate language delay, no seizures, ADHD; long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of non-ASD discovery case F8-2.

Cognitive Profile:

Mild MR

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Autism

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -

ben-shacher_09_ASD_discovery_cases-caseF9-1

Clinical Profile:

Severe language delay, no seizures, extremely hyperkinetic & very aggressive behaviors, mild facial dysmorphism; weight 50%, height 75% (10 yrs.), FOC 50% (birth)

Cognitive Profile:

IQ 27

Ben-Shachar S , et al. (2009)
Primary Diagnosis: ASD

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF10-1

Clinical Profile:

Global developmental delay, too young to determine ASD; severe language delay, no seizures, rocking, normal MRI; weight 2%, height 10%, FOC 25%

Cognitive Profile:

NA

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Developmental delay

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Multiplex (siblings with learning disability)
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex (siblings with learning disability)
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF11-1

Clinical Profile:

Moderate developmental delay, no ASD; severe language delay, no seizures; weight 95%, height 90%, FOC >97%

Cognitive Profile:

NA

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Developmental delay

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF3-1

Clinical Profile:

Moderate developmental delay/borderline ASD; severe language delay, no seizures, normal MRI, weight/height/FOC all 50-75%

Cognitive Profile:

NA

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Developmental delay

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF4-1

Clinical Profile:

Mild language delay, normal developmental delay (?), no ASD, seizures, normal MRI; weight 65%, height 7%

Cognitive Profile:

NA

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Language delay

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF5-1

Clinical Profile:

Moderate developmental delay, no ASD; moderate language delay, no seizures, digital findings, arachnoid cyst; weight 44%, height 11%, FOC 75%

Cognitive Profile:

NA

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Developmental delay

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF6-1

Clinical Profile:

Mild developmental delay, no ASD; moderate language delay, no seizures, aggressive, self-injurious; weight 92%, height >89%, FOC 50%

Cognitive Profile:

NA

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Developmental delay

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF7-1

Clinical Profile:

Moderate developmental delay, no ASD; moderate language delay, no seizures, head banging, digital findings, normal MRI; weight, height, & FOC within normal range

Cognitive Profile:

NA

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Developmental delay

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: Unknown
Gene Content: -

ben-shacher_09_non-ASD_discovery_cases-caseF8-2

Clinical Profile:

No ASD; moderate language delay, no seizures, impulsive, ADHD, mood disorder, long digits, facial dysmorphisms, sleep problems; weight, height, and FOC within normal range. Sibling of ASD discovery case F8-1.

Cognitive Profile:

Mild MR

Ben-Shachar S , et al. (2009)
Primary Diagnosis: Mental retardation

Age: NA

Gender: -
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: -
CNV End: -
CNV Size: 1600000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -

bertelsen_14_TS/ADHD/OCD/ASD_discovery_cases-patient5

Clinical Profile:

Symptoms: TS. Family history: both mother and father were unaffected.

Cognitive Profile:

N/A

Bertelsen B , et al. (2014)
Primary Diagnosis: Tourette syndrome

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31726984
CNV End: 32147097
CNV Size: 420114
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

celestino-soper_11_ASD_discovery_cases-11178

Clinical Profile:

NA

Cognitive Profile:

NA

Celestino-Soper PB , et al. (2011)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32153551
CNV End: 32170442
CNV Size: 16892
Validation Description: Solid phase hybridization (Illumina 1M SNP)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

chen_17_ASD_discovery_cases-caseU-1850

Clinical Profile:

Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 11 (past score 22); Qualitative abnormalities in verbal and nonverbal communication, current score 6 (past score 11); Qualitative abnormalities in nonverbal communication, current score 3 (past score 6); Restricted, repetitive, and stereotyped patterns of behaviour, current score 6 (past score 8); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 95; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 41. Epilepsy: no history of epilepsy.

Cognitive Profile:

Performance IQ 105, Verbal IQ 114, Full-scale IQ 111

Chen CH , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 32853510
CNV End: 33253897
CNV Size: 400388
Validation Description: RT-qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: HNRNPA1P71, TMCO5B, FMN1

chen_17_ASD_discovery_cases-caseU-2158

Clinical Profile:

Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 0 (past score 8); Qualitative abnormalities in verbal and nonverbal communication, current score 2 (past score 10); Qualitative abnormalities in nonverbal communication, current score 0 (past score 5); Restricted, repetitive, and stereotyped patterns of behaviour, current score 5 (past score 6); Abnormality of development evident at or before 36 months, past score 2. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 71; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 28. Epilepsy: no history of epilepsy.

Cognitive Profile:

Performance IQ 112, Verbal IQ 95, Full-scale IQ 103

Chen CH , et al. (2017)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 32166460
CNV End: 32565269
CNV Size: 398810
Validation Description: RT-qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, ULK4P1, LINC02256, CHRNA7

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: 31729530
CNV End: 32218662
CNV Size: 489133
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Possibly simplex (no info on 1st child)
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

christian_08_ASD_discovery_cases-AU052003

Clinical Profile:

NA

Cognitive Profile:

NA

Christian SL , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 30999907
CNV End: 31371464
CNV Size: 371558
Validation Description: FISH, microsatellite
Primary Disorder Inheritence: -
CNV Inheritance: inherited
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR211, LINC02352, KLF13, TRPM1

egger_14_ASD_discovery_cases-caseA2

Clinical Profile:

Diagnosis: early infantile autism. Comorbidities/additional features: ADHD. Family history: sister with cognitive impairment. CNV: high stringency genic CNV call (2 or more algorithms, with no overlapping calls in 2,357 POPGEN and OHI controls, 100% overlap in DGV.

Cognitive Profile:

Cognitive impairment (IQ<60)

Egger G , et al. (2014)
Primary Diagnosis: ASD

Age: 23 yrs. (born 1991)

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 31707442
CNV End: 32151995
CNV Size: 444554
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

firouzabadi_16_ASD_discovery_cases-patient3

Clinical Profile:

Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: seizures. Growth parameters: mild microcephaly (head circumference -2 SD).

Cognitive Profile:

Intellectual disability

Firouzabadi SG , et al. (2016)
Primary Diagnosis: ASD

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31772827
CNV End: 32217696
CNV Size: 444870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER263739

Clinical Profile:

Global developmental delay; Abnormal facial shape; Mild short stature; Abnormality of the cardiac septa

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Developmental delay

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31673312
CNV End: 32526812
CNV Size: 853501
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, ULK4P1, OTUD7A, CHRNA7

fry_16_DD/ID/EP/ASD_discovery_cases-caseR528

Clinical Profile:

Clinical features: severe intellectual disability, developmental regression, ASD, challenging behavior, dysmorphic features. Age of seizure onset: 11 years. Epilepsy syndrome: focal epilepsy. Seizure types: absence seizures.

Cognitive Profile:

Severe intellectual disability

Fry AE , et al. (2016)
Primary Diagnosis: ASD, intellectual disability and epilepsy

Age: 23 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 31727716
CNV End: 32222140
CNV Size: 494425
Validation Description: Solid phase hybridization (Illumina)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

fry_16_DD/ID/EP/ASD_discovery_cases-caseR650

Clinical Profile:

Clinical features: mild intellectual disability, thin habitus, depression. Age of seizure onset: 18 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: absence seizures, myoclonic seizures, generalized tonic-clonic seizures.

Cognitive Profile:

Mild intellectual disability

Fry AE , et al. (2016)
Primary Diagnosis: Intellectual disability and epilepsy

Age: 21 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 31737490
CNV End: 32222725
CNV Size: 485236
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

gazzellone_14_ASD_discovery_cases-case534-3

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: 31914658
CNV End: 31939060
CNV Size: 24403
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

ghasemi_firouzabadi_16_ASD_discovery_cases-p35

Clinical Profile:

Seizures, ADHD, microcephaly

Cognitive Profile:

Intellectual disability

Ghasemi Firouzabadi S , et al. (2017)
Primary Diagnosis: ASD

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: Unknown
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient1

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for autism on ADOS (clinical impression of ASD). Original reason for referral: Central nervous system disorder. Developmental milestones: walking at 19 months, first word at 17 months, 2 word sentences at 47 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 25th %ile, weight 10th %ile, OFC 90th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, mother was bipolar as a teen and had challenges in high school; noncarrier parental phenotype, father has a history of depression and had challenges in high school.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 71.

Gillentine MA , et al. (2016)
Primary Diagnosis: ASD and ADHD

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31923071
CNV End: 32153051
CNV Size: 229981
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient10

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Moderate developmental delay/intellectual disability, dysmorphic features. Developmental milestones: sitting at 12 months, walking at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 80th %ile, OFC 36th %ile. Ethnicity: Vietnamese. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 38.

Gillentine MA , et al. (2016)
Primary Diagnosis: ASD and developmental delay/intellectual disability

Age: 10 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32003935
CNV End: 32151825
CNV Size: 147891
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient11

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay, behavioral problems. Developmental milestones: sitting at 10 months, crawling at 10 months, walking at 14 months, first word at 42 months, two word sentences at 60 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: one seizure at age of 8 months. Growth parameters: height 5th %ile, weight 1st %ile, OFC <1st %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of schizophrenia, ADHD, and learnng disability; noncarrier parental phenotype, mother has a history of depression and anxiety; CHRNA7 duplication is present in 1/2 siblings presenting with unspecified neuropsychiatric conditions.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 85.

Gillentine MA , et al. (2016)
Primary Diagnosis: ADHD and developmental delay

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31926071
CNV End: 32153051
CNV Size: 226981
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient12

Clinical Profile:

Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, partial empty sella with small pituitary, ADHD, epilepsy. Developmental milestones: sitting at 5 months, crawling at 5 months, walking at 10 months, first word at 10 months, two word sentences of 18 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: idiopathic generalized epilepsy. Growth parameters: height 1st %ile, weight 2nd %ile, OFC 2nd %ile. Ethnicity: Caucasian/Native American. Family history: carrier parental phenotype, N/A; noncarrier parental phenotype, N/A.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 72.

Gillentine MA , et al. (2016)
Primary Diagnosis: ADHD and epilepsy

Age: 14 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31926071
CNV End: 32132866
CNV Size: 206796
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient13

Clinical Profile:

Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Bipolar disorder, possible ADHD, behavioral problems, suicidal tendencies, prenatal exposure to teratogens, scoliosis, chromosomal abnormality. Developmental milestones: sitting at 5 months, crawling at 9 months, walking at 12 months, first word at 10 months, two word sentences at 12 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 50th %ile, weight 90th %ile, OFC N/A. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of bipolar disorder, PTSD, and substance abuse; noncarrier parental phenotype, mother has a history of anxiety.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 87.

Gillentine MA , et al. (2016)
Primary Diagnosis: ADHD and bipolar disorder

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31926071
CNV End: 32146594
CNV Size: 220524
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient14

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Dysmorphic features. Developmental milestones: crawling at 11 months, walking at 17 months, two word sentences at 42 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 67th %ile, weight 75th %ile, OFC 97th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of depression and attention deficit disorder; unaffected sibling who tested negative for the CHRNA7 duplication.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 101.

Gillentine MA , et al. (2016)
Primary Diagnosis: ASD

Age: 8 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31926071
CNV End: 32122959
CNV Size: 196889
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient15

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay/intellectual disability, aortic dilatation. Developmental milestones: sitting at 7 months, crawling at 14 months, walking at 19 months, first word at 36 months, two word sentences at 42 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 20th %ile, weight 10th %ile, OFC 41st %ile. Ethnicity: Caucasian/Hispanic. Family history: carrier parental phenotype, father has a history of learning disabilities/intellectual disabilities; noncarrier parental phenotype, none.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 64.

Gillentine MA , et al. (2016)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31926071
CNV End: 32153051
CNV Size: 226981
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient17

Clinical Profile:

Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Dyslexia, anger control problems. Developmental milestones: sitting at 5 months, crawling at 6 months, walking at 12 months, first word at 14 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 61st %ile, weight 93rd %ile, OFC 67th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none; affected sibling with CHRNA7 duplication (patient 5 in this report).

Cognitive Profile:

Full scale ratio IQ (DAS-II): 89.

Gillentine MA , et al. (2016)
Primary Diagnosis: Dyslexia

Age: 11 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 32003935
CNV End: 32151825
CNV Size: 147891
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient18

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Developmental delay, macrocephaly. Developmental milestones: sitting at 7 months, crawling at 11 months, walking at 16 months, first word at 15 months, two word sentences at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 70th %ile, weight 70th %ile, OFC 99th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of stutter and currently takes concerta.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 59.

Gillentine MA , et al. (2016)
Primary Diagnosis: ASD and ADHD

Age: 10 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31926071
CNV End: 32153051
CNV Size: 226981
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient2

Clinical Profile:

Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Encephalopathy. Developmental milestones: sitting at 5 months, walking at 9 months, first word at 24 months, two word sentences at 60 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 25th %ile, weight 25th %ile, OFC 50th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has no phenotype.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 53.

Gillentine MA , et al. (2016)
Primary Diagnosis: Encephalopathy and language impairment

Age: 11 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 32003935
CNV End: 32153051
CNV Size: 149117
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient3

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R and met criteria for being on the autistic spectrum on ADOS (clinical impression of ASD). Original reason for referral: Autism. Developmental milestones: sitting at 6.5 months, crawling at 8.5 months, walking at 13 months, first word at 10 months, two word sentences at 30 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 66.43th %ile, weight 67.85th %ile, OFC 70th %ile. Ethnicity: Caucasian/Hispanic. Family history: carrier parental phenotype, mother has a history of depression; noncarrier parental phenotype, father has a history of Asperger syndrome, ADHD, anxiety, and hypotonia.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 132.

Gillentine MA , et al. (2016)
Primary Diagnosis: ASD and ADHD

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31926071
CNV End: 32153051
CNV Size: 226981
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient5

Clinical Profile:

Assessment by ADI-R and ADOS N/A (clinical impression of ASD N/A). Original reason for referral: Developmental delay. Developmental milestones: first word at 24 months. Langauge and communication evaluation: absent speech (non-verbal). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: myoclonic epilepsy and infantile spasms. Growth parameters: N/A. Ethnicity: Caucasian. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none; affected sibling with CHRNA7 duplication (patient 17 in this report).

Cognitive Profile:

Full scale ratio IQ (DAS-II): N/A.

Gillentine MA , et al. (2016)
Primary Diagnosis: Developmental delay and epilepsy

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 32003935
CNV End: 32151825
CNV Size: 147891
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient6

Clinical Profile:

Case did not meet cutoff scores in all behavioral areas on ADI-R and was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Developmental delay. Developmental milestones: sitting at 12 months, crawling at 12 months, walking at 36 months, first word at 42 months, two word sentences at 48 months. Langauge and communication evaluation: no language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 14.97th %ile, weight 38.7th %ile, OFC 45th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 103.

Gillentine MA , et al. (2016)
Primary Diagnosis: Developmental delay

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32003935
CNV End: 32151889
CNV Size: 147955
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient7

Clinical Profile:

Case did not meet cutoff scores in all behavioral areas on ADI-R but was classified as being on the autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: Short stature, speech delay, dysmorphic features. Developmental milestones: N/A. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 0.32th %ile, weight 3.03th %ile, OFC 5th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 53.

Gillentine MA , et al. (2016)
Primary Diagnosis: Speech delay

Age: 14 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32003935
CNV End: 32153051
CNV Size: 149117
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient8

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of no ASD). Original reason for referral: None. Developmental milestones: sitting at 10 months, crawling at 12 months, walking at 14 months, first word at 14 months, two word sentences at 36 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: no ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 70th %ile, weight 20th %ile, OFC 55th %ile. Ethnicity: Caucasian. Family history: carrier parental phenotype, father has a history of dyslexia; noncarrier parental phenotype; none; CHRNA7 duplication is also present in a affected sibling (cognitive deficits).

Cognitive Profile:

Full scale ratio IQ (DAS-II): 115.

Gillentine MA , et al. (2016)
Primary Diagnosis: Language impairment and hypotonia

Age: 10 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31711334
CNV End: 32151843
CNV Size: 440510
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

gillentine_16_ASD/ADHD/DD/ID_discovery_cases-patient9

Clinical Profile:

Case met or exceeded cutoff scores in all behavioral areas on ADI-R but was classified as non-autism spectrum according to ADOS (clinical impression of ASD). Original reason for referral: None. Developmental milestones: sitting at 8 months, crawling at 10 months, walking at 15 months, first word at 13 months, two word sentences at 48 months. Langauge and communication evaluation: language impairment. Motor and musculoskeletal evaluation: no hypotonia. Behavioral/psychiatric evaluation: ADHD. Epilepsy/seizures: no seizures. Growth parameters: height 84.17th %ile, weight 89.84th %ile, OFC 75th %ile. Ethnicity: Hispanic. Family history: carrier parental phenotype, none; noncarrier parental phenotype, none.

Cognitive Profile:

Full scale ratio IQ (DAS-II): 88.

Gillentine MA , et al. (2016)
Primary Diagnosis: ASD and ADHD

Age: 6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31711334
CNV End: 32151843
CNV Size: 440510
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_11_ASD_discovery_cases-Si129

Clinical Profile:

ADOS score: 9. Vineland composite score: 77.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 61; Verbal IQ, 58; Non-verbal IQ, 64.

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

Age: 6

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31709285
CNV End: 32146043
CNV Size: 436759
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_11_ASD_discovery_cases-Si229

Clinical Profile:

ADOS score: 9. Vineland composite score: 69.

Cognitive Profile:

Mild mental retardation/intellectual disability. Full-scale IQ, 59; Verbal IQ, 45; Non-verbal IQ, 67.

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

Age: 11

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31727660
CNV End: 32146043
CNV Size: 418384
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

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: 31727660
CNV End: 32136077
CNV Size: 408418
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0681

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0682

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0683

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0684

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0685

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0686

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0687

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0688

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0689

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0690

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0691

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0692

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0693

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0694

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0695

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0696

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0697

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0698

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0699

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0700

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0701

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0702

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0703

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0704

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0705

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0706

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0707

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0708

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0709

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0710

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0711

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0712

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0713

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0714

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0715

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0716

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0717

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0718

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0719

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0720

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0721

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0722

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0723

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0724

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0725

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0726

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0727

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0728

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0729

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0730

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0731

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0732

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0733

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0734

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0735

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0736

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0737

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0738

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0739

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0740

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0741

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0742

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0743

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0744

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0745

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0746

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0747

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0748

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0749

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0750

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0751

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0752

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0753

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0754

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0755

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0756

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0757

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0758

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0759

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0760

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0761

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0762

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0763

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0764

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0765

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0766

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0767

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0768

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0769

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0770

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0771

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0772

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0773

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0774

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0775

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0776

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0777

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0778

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0779

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0780

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0781

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0782

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0783

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0784

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0785

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0786

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0787

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0788

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0789

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0790

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0791

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0792

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0793

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0794

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0795

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0796

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0797

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0798

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0799

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0800

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0801

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0802

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0803

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0804

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0805

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0806

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0807

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0808

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0809

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0810

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0811

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case0812

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case28304

Clinical Profile:

Multiple congenital anomalies (MCA)

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case31441

Clinical Profile:

Heart defect

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case38091

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case40242

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_12_ASD/DD/ID_discovery_cases-case46810

Clinical Profile:

NA

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: 31720505
CNV End: 32160507
CNV Size: 440003
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_13a_ASD_discovery_cases-13686.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: 31063151
CNV End: 31099454
CNV Size: 36304
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR211, TRPM1

girirajan_13a_ASD_discovery_cases-AU0316301

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: 31063151
CNV End: 31099454
CNV Size: 36304
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR211, TRPM1

girirajan_13a_ASD_discovery_cases-AU079904

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: 31063151
CNV End: 31099454
CNV Size: 36304
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Both parents
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR211, TRPM1

girirajan_13a_ASD_discovery_cases-AU1006301

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: 31097443
CNV End: 31109013
CNV Size: 11571
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -

girirajan_13a_ASD_discovery_cases-AU2275301

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: 31063151
CNV End: 31099454
CNV Size: 36304
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: MIR211, TRPM1

girirajan_13b_ASD_discovery_cases-10609111027

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: 31727660
CNV End: 32146043
CNV Size: 418384
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

girirajan_13b_ASD_discovery_cases-10609111027

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: 31711615
CNV End: 32326798
CNV Size: 615184
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-18P, OTUD7A, CHRNA7

girirajan_13b_ASD_discovery_cases-9106105625

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: 31727660
CNV End: 32146043
CNV Size: 418384
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

handrigan_13_ASD/DD/ID_discovery_cases-patient32

Clinical Profile:

Neurodevelopmental abnormalities: PDD (pervasive developmental delay). Urological abnormalities: none reported. Other features: none reported. Growth parameters: not reported.

Cognitive Profile:

-

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

Age: 6 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31737398
CNV End: 32146912
CNV Size: 409515
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

hnoonual_17_ASD_discovery_cases-caseRA29

Clinical Profile:

No additional clinical features

Cognitive Profile:

Intellectual disability

Hnoonual A , et al. (2017)
Primary Diagnosis: ASD and intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 32097159
CNV End: 32122887
CNV Size: 25729
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (not paternal)
Family Profile: -
Genome Build: GRCh38
Gene Content: -

hoppman-chaney_12_CHRNA7_discovery_cases-probandA

Clinical Profile:

Autism spectrum disorder: autism. Behavioral problems: ADHD, aggression, hyperphagia. Seizures: Yes. Dysmorphic facial features: short & thick philtrum, full lips, everted upper & lower lips, mild retrognathia. Other features: abnormal hand movements, hypertrichosis on upper arms, bilateral single palmar creases, mildly tapered fingers, shirt 5th metacarpals, hypomelanotic macules, nystagmus, T2 hyperintensity in cerebral cortex. Family history: father with bipolar disorder; two half-siblings with ADHD, facial dysmorphism, and myopia; one half-sibling with strawberry hemangiona on arm (too young to evaluate psychiatric condition); all carry 15q13.3/CHRNA7 deletion.

Cognitive Profile:

Global developmental delay and cognitive disability

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Autism + DD/ID

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

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

hoppman-chaney_12_CHRNA7_discovery_cases-probandF

Clinical Profile:

Autism spectrum disorder: NA. Behavioral problems: Yes. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: father with psychiatric problems; sister with developmental delay; paternal aunt with bipolar disorder, paternal cousin with cognitive disabilities (all affected individuals carry 15q13.3/CHRNA7 deletion).

Cognitive Profile:

Developmental delay and cognitive disability

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Developmental delay + intellectual disability

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal (unconfirmed)
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: -

hoppman-chaney_12_CHRNA7_discovery_cases-probandK

Clinical Profile:

Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: failure to thrive. Family history: both parents with developmental delay.

Cognitive Profile:

NA

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Other

Age: 5 wks.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown (negative paternal testing)
Family Profile: Unknown
Genome Build: Unknown
Gene Content: -

hoppman-chaney_12_CHRNA7_discovery_cases-probandL

Clinical Profile:

Autism spectrum disorder: PDD-NOS. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: NA.

Cognitive Profile:

NA

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: PDD-NOS

Age: 7 yrs.

Gender: M
Primary Disorder Inheritence: -

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

hoppman-chaney_12_CHRNA7_discovery_cases-probandM

Clinical Profile:

Autism spectrum disorder: PDD-NOS. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA. Other features: NA. Family history: NA.

Cognitive Profile:

NA

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: PDD-NOS

Age: 2 yrs.

Gender: M
Primary Disorder Inheritence: -

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

hoppman-chaney_12_CHRNA7_discovery_cases-probandN

Clinical Profile:

Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: none. Other features: feeding difficulties, central hypotonia, neutropenia. Family history: mother with anxiety and major depression.

Cognitive Profile:

NA

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Other

Age: 5 wks.

Gender: F
Primary Disorder Inheritence: -

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

hoppman-chaney_12_CHRNA7_discovery_cases-probandO

Clinical Profile:

Autism spectrum disorder: autism. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: macrocephaly. Other features: NA. Family history: father with dyslexia and ADHD.

Cognitive Profile:

NA

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Autism

Age: 3 yrs.

Gender: M
Primary Disorder Inheritence: -

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

hoppman-chaney_12_CHRNA7_discovery_cases-probandR

Clinical Profile:

Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: mild hypertelorism. Other features: chronic otitis media. Family history: NA.

Cognitive Profile:

No developmental delay or cognitive disability

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Other

Age: 9 mos.

Gender: M
Primary Disorder Inheritence: -

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

hoppman-chaney_12_CHRNA7_discovery_cases-probandS

Clinical Profile:

Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: NA . Other features: lack of coordination. Family history: NA.

Cognitive Profile:

NA

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Other

Age: 16 mos.

Gender: M
Primary Disorder Inheritence: -

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

hoppman-chaney_12_CHRNA7_discovery_cases-probandT

Clinical Profile:

Autism spectrum disorder: NA. Behavioral problems: NA. Seizures: NA. Dysmorphic facial features: microcephaly. Other features: failure to thrive, hypotonia, structural brain anomaly, encephalopathy. Family history: NA.

Cognitive Profile:

Global developmental delay and cognitive disability

Hoppman-Chaney N , et al. (2012)
Primary Diagnosis: Developmental delay + intellectual disability

Age: 4 yrs.

Gender: M
Primary Disorder Inheritence: -

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

kamien_14_ASD_discovery_cases-case2

Clinical Profile:

Diagnosis of autistic disorder made using ADOS, ADI-R, and DSM-IV-TR criteria performed at age of 4 years, 6 months. Birth/neonatal history: born at 36 weeks gestation after uncomplicated pregnancy with no known exposures in utero; birth weight of 3.33 kg (AGA). Developmental milestones: concerns raised at age of 18 months for speech delay. Behavioral/psychiatric evaluation: anxiety and sensory issues. Other features: normal investigations including fragile X testing and urine metabolic screening. Dysmorphic features: relatively smooth philtrum. Growth parameters: height of 118 cm (97th %ile), weight of 15.0 kg (10th %ile), and head circumference of 51.0 cm (50th %ile) at age of 5 years. Family history: father (positive for 16p13.3/RBFOX1 deletion) with no medical conditions and no reported learning difficulties or social difficulties; maternal and paternal relatives reported ro have significant learning difficulties or ASD, but no testing data available.

Cognitive Profile:

Griffith's Developmental assessment at age of 5 years showed cognitive performance of approximately 4 years, 9 months (i.e. within lower end of average range of functioning).

Kamien B , et al. (2014)
Primary Diagnosis: ASD

Age: 5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: 31772827
CNV End: 32217696
CNV Size: 444870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000593

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: 31738809
CNV End: 32217725
CNV Size: 478917
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002161

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: 31729530
CNV End: 32149250
CNV Size: 419721
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002262

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: 31729530
CNV End: 32149250
CNV Size: 419721
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002362

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31729530
CNV End: 32149250
CNV Size: 419721
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002422

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: 31729530
CNV End: 32149250
CNV Size: 419721
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002426

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: 31729530
CNV End: 32149250
CNV Size: 419721
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002507

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: 31729530
CNV End: 32149250
CNV Size: 419721
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003877

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: 31738809
CNV End: 32217725
CNV Size: 478917
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004060

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: 31729530
CNV End: 32222779
CNV Size: 493250
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: OTUD7A, CHRNA7

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004441

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: 31806467
CNV End: 32343758
CNV Size: 537292
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: RNU6-18P, OTUD7A, CHRNA7

krumm_13_ASD_discovery_cases-case12833.p1

Clinical Profile:

ASD proband from SSC quad family 12833. SRS score of 76.

Cognitive Profile:

Full-scale IQ (FSIQ) score of 65.

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case11298.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: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case12219.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: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case13661.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: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case14086.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: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case14125.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: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case14213.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: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

krumm_15_ASD_discovery_cases-case14268.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: 32030897
CNV End: 32111899
CNV Size: 81003
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

leblond_12_ASD_discovery_cases-AUGB038_3

Clinical Profile:

ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.

Cognitive Profile:

Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)

Leblond CS , et al. (2012)
Primary Diagnosis: Autism

Age: 11.05 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31727716
CNV End: 32223772
CNV Size: 496057
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

leblond_12_ASD_replication_cases-Pintocase5237_3

Clinical Profile:

Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.

Cognitive Profile:

Below average non-verbal IQ (<1st %ile)

Leblond CS , et al. (2012)
Primary Diagnosis: Autism

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 31728323
CNV End: 32223772
CNV Size: 495450
Validation Description: aCGH (Agilent 1M)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

lintas_17_ASD_discovery_cases-case13.1

Clinical Profile:

No additional clinical information available

Cognitive Profile:

-

Lintas C , et al. (2017)
Primary Diagnosis: Autism

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 31864901
CNV End: 32134668
CNV Size: 269768
Validation Description: Validation by visual inspection, RT-PCR, or PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

lintas_17_ASD_discovery_cases-case5.1

Clinical Profile:

No additional clinical information available

Cognitive Profile:

-

Lintas C , et al. (2017)
Primary Diagnosis: Autism

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 31680443
CNV End: 32146742
CNV Size: 466300
Validation Description: Validation by visual inspection, RT-PCR, or PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

lintas_17_ASD_discovery_cases-case5.2

Clinical Profile:

No additional clinical information available

Cognitive Profile:

-

Lintas C , et al. (2017)
Primary Diagnosis: Asperger syndrome

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 31680443
CNV End: 32146742
CNV Size: 466300
Validation Description: Validation by visual inspection, RT-PCR, or PCR
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

lionel_13_ASD/ADHD/DD/ID_discovery_cases-case3

Clinical Profile:

Growth restriction, low birth weight. Chiari I malformation. Dysmorphic features and congenital anomalies: transverse palmar crease, cleft lip/palate.

Cognitive Profile:

-

Lionel AC , et al. (2014)
Primary Diagnosis: Chiari I malformation

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 31772827
CNV End: 32217696
CNV Size: 444870
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

lionel_13_ASD/SCZ/EP_discovery_cases-proband3

Clinical Profile:

Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.

Cognitive Profile:

Intellectual disability

Lionel AC , et al. (2013)
Primary Diagnosis: ASD and ID

Age: 15 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 32323405
CNV End: 32384654
CNV Size: 61250
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

li_18_ASD_discovery_cases-case4601

Clinical Profile:

Diagnosis of ASD made according to DSM-IV

Cognitive Profile:

-

Li SJ , et al. (2018)
Primary Diagnosis: ASD

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31688737
CNV End: 32172827
CNV Size: 484091
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case1

Clinical Profile:

Language and communication: speech dysarticulation. Other features: adrenal adenoma, hyperlipidemia, osteoporosis, GERD, multiple small-bowel obstructions, renal cyst, Mosaic Turner syndrome (6 of 24 cells), hirsuitism. Growth parameters: OFC 50th %ile, height of 152.4 cm (short stature), BMI of 27.2 kg/m2. Family history: five family members (deceased father, three siblings, and one niece) affected wtith DD/ID and/or other psychiatric disorders (3/4 surviving family memebrs tested positive for 15q13.3 deletion).

Cognitive Profile:

Moderate intellectual disability (IQ testing at age of 30 years revealed FSIQ of 48, performance IQ of 44, and verbal IQ of 56)

Lowther C , et al. (2014)
Primary Diagnosis: Schizophrenia and intellectual disability

Age: 65 yrs.

Gender: F
Primary Disorder Inheritence: Possibly paternal

Family Profile: Multi-generational
CNV Start: 30529434
CNV End: 32220019
CNV Size: 1690586
Validation Description: FISH
Primary Disorder Inheritence: Possibly paternal
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: GRCh38
Gene Content: RN7SL796P, DNM1P50, RN7SL628P, GOLGA8UP, RN7SL82P, RNU6-466P, MIR211, LINC02352, UBE2CP4, GOLGA8Q, ULK4P2, GOLGA8H, ARHGAP11B, HERC2P10, MTMR10, KLF13, FAN1, TRPM1, OTUD7A, CHRNA7

lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case5

Clinical Profile:

Epilepsy/seizures: primary generalized epilepsy; absence/generalized tonic-clonic seizures. EEG: abnormal. Language and communication evaluation: speech dysarthria. Behavioral/psychiatric evaluation: major depression, anxiety. Brain imaging: abnormal CT head without contrast. Birth/neonatal history: difficult pregnancy for her mother due to macrosomia; birth weight of 9.5 lbs. Medical history: congenital thyroid hypoplasia requiring thyroxine, sleep apnea, nystagmus. Growth parameters: N/A. Family history: positive for seizures on father's side.

Cognitive Profile:

Learning disability

Lowther C , et al. (2014)
Primary Diagnosis: Epilepsy and learning disability

Age: 39 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: N/A
CNV End: N/A
CNV Size: N/A
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: NCBI36
Gene Content: Approximate gene content: LOC100288637, HERC2P10, MTMR10, FAN1, TRPM1, MIR211, LOC283710, KLF13, OTUD7A, CHRNA7

lowther_14_DD/ID/ADHD/EP/SCZ_discovery_cases-case6

Clinical Profile:

Language and communication evaluation: normal speech. Motor and musculoskeletal evaluation: scoliosis. Behavioral/psychiatric evaluation: major depression, anxiety. Other features: tonsillectomy, acquired unilateral hearing loss, type 2 diabetes mellitus, spontaneously closed septal defect during childhood. Family history: son with DD/ID and 15q13.3 deletion.

Cognitive Profile:

Learning disability

Lowther C , et al. (2014)
Primary Diagnosis: Learning disability

Age: 39 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Multi-generational (affected son with deletion)
CNV Start: 30662523
CNV End: 32222756
CNV Size: 1560234
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational (affected son with deletion)
Genome Build: GRCh38
Gene Content: GOLGA8UP, RN7SL82P, RNU6-466P, MIR211, LINC02352, UBE2CP4, HERC2P10, MTMR10, KLF13, FAN1, TRPM1, OTUD7A, CHRNA7

melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-4

Clinical Profile:

Diagnosis of Tourette syndrome (TS) based on DSM-IV-TR criteria. Additional diagnoses of obsessive-compulsive disorder (OCD) and ADHD. Case started to have tics at age of 7.5 years (total tic store at age of 8.5 years); methylphenidate treatment initiated at age of 8 years for ADHD symptoms; case also had OCD and rage attacks, did not have seasonal affective disorder, depression, sleeping disturbances, or stuttering. Family history: monozygotic twin brother with Tourette syndrome (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-3), older brother with Tourette syndrome and OCD (melchior_13_TS/ADHD/OCD_discovery_cases-caseIV-2), mother with subclinical ADHD, father with subclinical OCD, family history of subclinical OCD and obsessive-compulsive behavior on maternal and paternal sides, and of tics on maternal side.

Cognitive Profile:

Full scale IQ of 82; received special educational support in school.

Melchior L , et al. (2013)
Primary Diagnosis: TS, ADHD, and OCD

Age: 8.5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 32011476
CNV End: 32444044
CNV Size: 433000
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: Unknown
Gene Content: OTUD7A, CHRNA7

mikhail_11_DD/ID_discovery_cases-patient7

Clinical Profile:

Behavioral problems: autistic features. Mild hypotonia. Dysmorphic features: mild hypertelorism, upslanted palpebral fissures. Growth parameters: height, 97 cm (10-25th %ile); weight, 15.0 kg (25-50th %ile); head circumference, 49.4 cm (25-50th %ile).

Cognitive Profile:

Intellectual disability, developmental delay

Park EH , et al. (2011)
Primary Diagnosis: Intellectual disability + developmental delay

Age: 4 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31680243
CNV End: 32217866
CNV Size: 537624
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

moreira_14_ASD/EP_discovery_cases-case2

Clinical Profile:

Language and communication evaluation: absent speech. Motor and musculoskeletal evaluation: hand/feet contractures. Epilepsy/seizures: yes. Dysmorphic features: deep set ears/prominent or large ears, short philtrum, thick lips. Growth parameters: height of 156 cm (<3rd %ile), weight of 50 kg (10th %ile), and head circumference of 54.5 cm (25th-50th %ile). Family history: consanguineous parents; two unaffected siblings (not available for testing).

Cognitive Profile:

-

Moreira DP , et al. (2014)
Primary Diagnosis: ASD and epilepsy

Age: 16 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 31731989
CNV End: 32217725
CNV Size: 485737
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

moreira_14_ASD/EP_discovery_cases-case3

Clinical Profile:

Developmental milestones: developmental delay/regression. Language and communication evaluation: absent speech. Epilepsy/seizures: yes. Dysmorphic features: bulbous nose, deep set ears/prominent or large ears, short philtrum. Growth parameters: height of 135 cm (3rd %ile), weight of 26 kg (<3rd %ile), and head circumference of 51 cm (<3rd %ile).

Cognitive Profile:

-

Moreira DP , et al. (2014)
Primary Diagnosis: ASD and epilepsy

Age: 12 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31663833
CNV End: 32219380
CNV Size: 555548
Validation Description: Array SNP
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

nguyen_13_DD/ID/MCA/ASD_discovery_cases-253202

Clinical Profile:

Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: DD/ID/MCA

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 31729530
CNV End: 32218662
CNV Size: 489133
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

nord_11_ASD_discovery_cases-316-1

Clinical Profile:

-

Cognitive Profile:

-

Nord AS , et al. (2011)
Primary Diagnosis: ASD

Age: -

Gender: -
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 29140951
CNV End: 29180148
CNV Size: 39198
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: Unknown
Gene Content: -

oikonomakis_16_ASD_discovery_cases-case449

Clinical Profile:

Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: hearing impairment

Cognitive Profile:

-

Oikonomakis V , et al. (2016)
Primary Diagnosis: ASD

Age: 18 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 31759030
CNV End: 32218662
CNV Size: 459633
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

oikonomakis_16_ASD_discovery_cases-case543

Clinical Profile:

Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: growth deficiency, stereotypic movements, frontal bossing, arched upper lip, macrostomia, open mouth, microcephaly

Cognitive Profile:

-

Oikonomakis V , et al. (2016)
Primary Diagnosis: ASD

Age: 3 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 32146683
CNV End: 32971442
CNV Size: 824760
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, RN7SL286P, ULK4P1, LINC02256, GOLGA8N, SCG5, GREM1, CHRNA7, ARHGAP11A, FMN1

pagnamenta_09_ASD_discovery_cases-probandcase1

Clinical Profile:

Delayed language development, severe obesessional & hyperactive behaviors, very limited social interaction, poor eye contact, slightly disturbed coordination & dysdiadochokinesia, no epilepsy or abnormal EEG, no dysmorphologies reported, head cicrumference >97th centile, no hypotonia.

Cognitive Profile:

Verbal IQ 85. Performance IQ 72. Full scale IQ 77.

Pagnamenta AT , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 30646012
CNV End: 32621939
CNV Size: 1975928
Validation Description: aCGH (Agilent 44K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: GOLGA8UP, RN7SL82P, RNU6-466P, MIR211, LINC02352, UBE2CP4, RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, RN7SL286P, HERC2P10, MTMR10, KLF13, ULK4P1, LINC02256, GOLGA8N, FAN1, TRPM1, OTUD7A, CHRNA7, ARHGAP11A

pagnamenta_09_ASD_proband_family_cases-case2

Clinical Profile:

Delayed language development, socailly withdrawn, hyperactive behavior, irritable behavior in groups, poor eye contact, obsessional interests and ritualistic behaviors, no epilepsy or abnormal EEG, no dysmorphologies reported, head circumference 10-25th centile, no hypotonia.

Cognitive Profile:

Verbal IQ 99 (PPVT=115). Performance IQ 94 (RAVEN SPM=100). Full Scale IQ 96.

Pagnamenta AT , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 30646012
CNV End: 32621939
CNV Size: 1975928
Validation Description: aCGH (Agilent 44K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: GOLGA8UP, RN7SL82P, RNU6-466P, MIR211, LINC02352, UBE2CP4, RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, RN7SL286P, HERC2P10, MTMR10, KLF13, ULK4P1, LINC02256, GOLGA8N, FAN1, TRPM1, OTUD7A, CHRNA7, ARHGAP11A

pagnamenta_09_ASD_proband_family_cases-case3

Clinical Profile:

Markedly delayed language development, socially withdrawn, fixated with certain objects, use of idiosyncratic speech with articulation abnormalities. Hypotonia, distrubed coodination, dysdiadochokinesia, no dominant laterality. No epilepsy or abnormal EEG, head circumference >97th centile.

Cognitive Profile:

Verbal IQ 85 (PPVT=90). Performance IQ 65. Full Scale IQ 72.

Pagnamenta AT , et al. (2008)
Primary Diagnosis: ASD

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 30646012
CNV End: 32621939
CNV Size: 1975928
Validation Description: aCGH (Agilent 44K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: GOLGA8UP, RN7SL82P, RNU6-466P, MIR211, LINC02352, UBE2CP4, RNU6-18P, DNM1P31, GOLGA8K, RN7SL185P, DNM1P32, GOLGA8O, RN7SL539P, RN7SL286P, HERC2P10, MTMR10, KLF13, ULK4P1, LINC02256, GOLGA8N, FAN1, TRPM1, OTUD7A, CHRNA7, ARHGAP11A

pinto_10_ASD_discovery_cases-case5237_3

Clinical Profile:

Below average language (<1%ile), no epilepsy, 5th finger clinodactyly, several curled toes

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: Simplex
CNV Start: 31728323
CNV End: 32223772
CNV Size: 495450
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

pinto_10_ASD_discovery_cases-case5248_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: 31713041
CNV End: 32223772
CNV Size: 510732
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: OTUD7A, CHRNA7

pinto_10_ASD_discovery_cases-case5311_3

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 29816096
CNV End: 30303265
CNV Size: 487170
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: paternal
Family Profile: NA
Genome Build: Unknown
Gene Content: -

pinto_10_ASD_discovery_cases-case5320_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: 29762552
CNV End: 30302973
CNV Size: 540422
Validation Description: Agilent1M
Primary Disorder Inheritence: -
CNV Inheritance: maternal
Family Profile: NA
Genome Build: Unknown