Copy Number Variants / 7q11.23

7q11.23

Case population data
Control population data
Type
Deletion-Duplication
Average Length
1168912
Range
72311894-74129587
Associated Human Genes
GTF2I, STX1A, YWHAG
Associated Mouse Models
M_DF(5)7_1_HT, M_DF(5)7_2_HT
Autism Reports
57
Populations
69 (63 case / 6 control)
Individuals
383 (350 case / 33 control)
Summary

Deletions at this locus are associated with Williams-Beuren syndrome (WBS), a developmental disorder frequently characterized by intellectual disability, learning difficulties, and other congenital anomalies. On the other hand, duplications at this locus have been preferentially identified in ASD patients.

Reports related to 7q11.23 (57 Reports)
# Type Title Author, Year
1 Major An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism. Edelmann L , et al. (2006)
2 Major Autism, language delay and mental retardation in a patient with 7q11 duplication. Depienne C , et al. (2007)
3 Major Phenomic determinants of genomic variation in autism spectrum disorders. Qiao Y , et al. (2009)
4 Minor Clinical genetic testing for patients with autism spectrum disorders. Shen Y , 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 Major Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Sanders SJ , et al. (2011)
7 Major Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
8 Major Autism, language delay and mental retardation in a patient with 7q11 duplication. Depienne C , et al. (2009)
9 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)
10 Minor 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)
11 Minor Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance. Gannon WT , et al. (2011)
12 Minor Asperger's disorder and Williams syndrome: a case report. Kilinaslan A , et al. (2011)
13 Major Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. Malenfant P , et al. (2011)
14 Minor Relative burden of large CNVs on a range of neurodevelopmental phenotypes. Girirajan S , et al. (2011)
15 Major 7q11.23 Microduplication: a recognizable phenotype. Dixit A , et al. (2012)
16 Major Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype. Tordjman S , et al. (2012)
17 Major Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Griswold AJ , et al. (2012)
18 Minor The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. Tzetis M , et al. (2012)
19 Major Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Bartnik M , et al. (2012)
20 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
21 Minor Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation. Mosrati MA , et al. (2012)
22 Minor Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Iourov IY , et al. (2013)
23 Minor A discovery resource of rare copy number variations in individuals with autism spectrum disorder. Prasad A , et al. (2013)
24 Minor Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Beunders G , et al. (2013)
25 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
26 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
27 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
28 Minor Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Nava C , et al. (2013)
29 Minor Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. Tropeano M , et al. (2013)
30 Major Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Fusco C , et al. (2013)
31 Major Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Mulle JG , et al. (2013)
32 Major Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome. Tordjman S , et al. (2013)
33 Major Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
34 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
35 Minor Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
36 Major Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Roberts JL , et al. (2013)
37 Major Brief report: functional MRI of a patient with 7q11.23 duplication syndrome and autism spectrum disorder. Prontera P , et al. (2014)
38 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
39 Minor The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. Al-Qattan SM , et al. (2014)
40 Major Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
41 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
42 Minor Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Tammimies K , et al. (2015)
43 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
44 Major Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. Tropeano M , et al. (2016)
45 Minor Phenotype of 7q11.23 duplication: A family clinical series. Earhart BA , et al. (2016)
46 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)
47 Minor Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017)
48 Minor Copy number variation analysis of patients with intellectual disability from North-West Spain. Quintela I , et al. (2017)
49 Minor Copy Number Variations independently induce Autism Spectrum Disorder. Xie Y , et al. (2017)
50 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)
51 Major Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
52 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
53 Major De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Wang S , et al. (2018)
54 Minor Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder Fan Y et al. (2018)
55 Minor The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders. Jiao Q , et al. (2019)
56 Minor Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders. Gao C , et al. (2019)
57 Major Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Breuss MW , et al. (2019)
Show all Case Details Show all Cohort Details

7q11.23

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: 100
Female: -
Unknown: -
CNV Size: 1658000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

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

7q11.23

Description:

Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada

Diagnosis:

Intellectual disability and/or mulitple congenital anomalies

Beunders G , et al. (2013)
Cohort Size: 49684

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 3477372

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
Software: -
Algorithm: -
Geographical Ancestry: NA

7q11.23

Description:

Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013

Diagnosis:

Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype

Al-Qattan SM , et al. (2014)
Cohort Size: 584

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 612356

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
Software: Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
Algorithm: HMM
Geographical Ancestry: Saudi Arabia

7q11.23

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: 3770

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

7q11.23

Description:

Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)

Diagnosis:

REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 1475150

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WGS

Validation Method:

PCR, array SNP

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

7q11.23

Description:

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

Diagnosis:

Cases diagnosed with ASD

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 610

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

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

7q11.23

Description:

ASD probands from the REACH cohort and from a cohort of ASD probands with an additional diagnosis of epilepsy (NYU Medical School)

Diagnosis:

Diagnosis of ASD (autism was assessed by a clinical psychologist using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule and the Childhood Autism Rating Scale).

Breuss MW , et al. (2019)
Cohort Size: 20

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1474822

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WGS

Validation Method:

PCR, ddPCR

Platform: Illumina HiSeq
Software: SAMtools v.1.2, GATK v.3.3, Picard Tools v.1.129
Algorithm: ForestSV, Lumpy, Mobster
Geographical Ancestry: N/A

7q11.23

Description:

Probands from the Paris Autism Research International Subpair (PARIS) study cohort. Patients recuitedat specialized clinical centers in France. 156 sporadic cases, 50 familial cases (from 27 families with 2 or more affected siblings)

Diagnosis:

ASD. Diagnosis based on DSM-IV and ADI-R. 199 patients with autism, 4 with PDD-NOS, 3 with Asperger's syndrome. 182 patients mentally disabled, 114 with limited or no language.

Depienne C , et al. (2007)
Cohort Size: 206

Age Min: 149
Age Max: 149
Average: 149

Male: 100
Female: -
Unknown: -
CNV Size: 1500000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Microsatellite analysis, MLPA

Validation Method:

qPCR, FISH

Platform: -
Software: GeneMapper v.4.0
Algorithm: -
Geographical Ancestry: Caucasian (n=172), black (n=13), South Asian (n=3), mixed ethnicity (n=18)

7q11.23

Description:

ASD patients recruited at specialized clinical centers in France as part of the Paris Autism Research International Sibpair (PARIS) study. 156 patients were sporadic cases, 50 patients belinged to 27 families with 2 affected siblings.

Diagnosis:

199 patients diagnosed with autism, 4 patients diagnosed with PDD-NOS, and 3 patients diagnosed with Asperger syndrome. Diagnosis based on clinical evaluation by experienced psychiatrists, DSM-IV criteria, and the ADI-R.

Depienne C , et al. (2009)
Cohort Size: 206

Age Min: 149
Age Max: 149
Average: 149

Male: 100
Female: -
Unknown: -
CNV Size: 1500000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Microsatellite analysis, MLPA

Validation Method:

qPCR, FISH

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: France

7q11.23

Description:

Autistic female referred to genetic study of autism in isolated founder population in the Central Valley of Costa Rica

Diagnosis:

Autism. Criteria for diagnosis of autism met in all three domains of ADI-R; criteria for diagnosis of autism met in social, play, and restricted behaviors domain for ADOS (2 points below cut-off score in communication domain).

Edelmann L , et al. (2006)
Cohort Size: 1

Age Min: 78
Age Max: 78
Average: 78

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

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, microsatellite analysis

Platform: BACs aCGH (Spectral Genomics Spectral Chip 2600)
Software: Spectralware v.2.24
Algorithm: -
Geographical Ancestry: Costa Rican

7q11.23

Description:

Cases with 7q11.23 duplications identified during routine clinical investigations in five different centers

Diagnosis:

All seven cases diagnosed with autistic features and speech delay. 2 cases assessed for autism using ADOS and ADI-R. 2 cases assessed for ADHD based on Connors Parent Rating Scale.

Dixit A , et al. (2012)
Cohort Size: 7

Age Min: 30
Age Max: 192
Average: 79.285714285714

Male: 71
Female: 29
Unknown: -
CNV Size: 4000000

Deletion: 0
Duplication: 7

Total CNV: 7
Discovery Method:

MLPA, aCGH, array SNP

Validation Method:

FISH, MLPA

Platform: BACs aCGH, BlueGnome 60K, BlueGnome 105K, Agilent 44K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: United Kingdom & Cyprus

7q11.23

Description:

Family members (a man and his four children) diagnosed with 7q11.23 duplication syndrome

Diagnosis:

Data supported ASD diagnosis for all five cases; all five cases also presented with language delay

Earhart BA , et al. (2016)
Cohort Size: 5

Age Min: 17
Age Max: 408
Average: 118.6

Male: 40
Female: 60
Unknown: -
CNV Size: 1779800

Deletion: 0
Duplication: 5

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

None

Platform: aCGH platform not reported
Software: -
Algorithm: -
Geographical Ancestry: Mexican

7q11.23

Description:

Patients with atypical 7q11.23 deletions and complex Williams-Beuren syndrome (WBS) phenotypes

Diagnosis:

Moderate-to-severe intellectual disability (ID) in all four cases; additional diagnoses of ADHD (2 cases) and pervasive developmental disorder (PDD, 1 case)

Fusco C , et al. (2013)
Cohort Size: 4

Age Min: 66
Age Max: 180
Average: 125.1

Male: 25
Female: 75
Unknown: -
CNV Size: 4223004

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

FISH, MLPA

Validation Method:

aCGH, qPCR

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

7q11.23

Description:

Samples from the Autism Genome Project (AGP)

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1437687

Deletion: 1
Duplication: 6

Total CNV: 7
Discovery Method:

Solid phase hybridization

Validation Method:

Yes

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

7q11.23

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: 156
Age Max: 156
Average: 156

Male: 100
Female: -
Unknown: -
CNV Size: 287000

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

7q11.23

Description:

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

Diagnosis:

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

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

Age Min: 24
Age Max: 24
Average: 24

Male: -
Female: 100
Unknown: -
CNV Size: 1512000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

7q11.23

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

7q11.23

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: 60
Female: -
Unknown: 40
CNV Size: 474465

Deletion: 2
Duplication: 1

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: -

7q11.23

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: 24
Age Max: 168
Average: 64

Male: 2
Female: 2
Unknown: 96
CNV Size: 1400000

Deletion: 83
Duplication: 39

Total CNV: 122
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

7q11.23

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: 2000745

Deletion: 1
Duplication: 5

Total CNV: 6
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

7q11.23

Description:

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

Diagnosis:

Developmental delay

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 2000745

Deletion: 2
Duplication: 16

Total CNV: 18
Discovery Method:

N/A

Validation Method:

None

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

7q11.23

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: 486576

Deletion: 1
Duplication: 1

Total CNV: 2
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

7q11.23

Description:

Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.

Diagnosis:

Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.

Griswold AJ , et al. (2012)
Cohort Size: 813

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1422935

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

Platform: Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Software: BeadStudio
Algorithm: Penn CNV, QuantiSNP
Geographical Ancestry: Range of self-reported ethnicities (specifics NA)

7q11.23

Description:

Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012

Diagnosis:

Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies

Iourov IY , et al. (2013)
Cohort Size: 54

Age Min: 12
Age Max: 12
Average: 12

Male: 100
Female: -
Unknown: -
CNV Size: 181527

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Russian

7q11.23

Description:

Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018

Diagnosis:

Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).

Jiao Q , et al. (2019)
Cohort Size: 220

Age Min: 66
Age Max: 66
Average: 66

Male: 100
Female: -
Unknown: -
CNV Size: 1460000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None

Platform: Low-coverage whole genome sequencing
Software: Illumina BclToFastq
Algorithm: -
Geographical Ancestry: China

7q11.23

Description:

Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders

Diagnosis:

Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.

Gao C , et al. (2019)
Cohort Size: 54

Age Min: 88
Age Max: 88
Average: 88

Male: -
Female: 100
Unknown: -
CNV Size: 1460000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

NGS

Validation Method:

None

Platform: Illumina HiSeq 2500
Software: FASTQ v.0.18.1
Algorithm: m-HMM
Geographical Ancestry: China

7q11.23

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: 2266283

Deletion: 44
Duplication: 19

Total CNV: 63
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

7q11.23

Description:

Male patient with Williams syndrome and Asperger syndrome born to non-consanguineous parents with unremarkable family history

Diagnosis:

Patient diagnosed with Williams syndrome, Asperger syndrome, and ADHD. Diagnosis of ADHD based on meeting DSM-IV criteria.

Kilinaslan A , et al. (2011)
Cohort Size: 1

Age Min: 180
Age Max: 180
Average: 180

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

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

FISH

Validation Method:

None

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Turkish

7q11.23

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: 50
Female: 50
Unknown: -
CNV Size: 1272427

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

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

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

7q11.23

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: 67
Female: 33
Unknown: -
CNV Size: 2102636

Deletion: 1
Duplication: 1

Total CNV: 2
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

7q11.23

Description:

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

Diagnosis:

Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.

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

Age Min: 96
Age Max: 288
Average: 192

Male: 50
Female: 50
Unknown: -
CNV Size: 1403494

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

N/A

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

7q11.23

Description:

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

Diagnosis:

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

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

Age Min: 96
Age Max: 288
Average: 192

Male: 50
Female: 50
Unknown: -
CNV Size: 1413953

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

N/A

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

7q11.23

Description:

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

Diagnosis:

ASD

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

Age Min: -
Age Max: -
Average: -

Male: 50
Female: 50
Unknown: -
CNV Size: 1423813

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

aCGH (Agilent 244K)

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

7q11.23

Description:

ASD probands from simplex (SPX) families.

Diagnosis:

Diagnosis of ASD. ADI-R and/or PDD Behavior Inventory (PDDBI) data available for all cases.

Malenfant P , et al. (2011)
Cohort Size: 478

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1400000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: Agilent 105K
Software: -
Algorithm: -
Geographical Ancestry: North American

7q11.23

Description:

ASD probands from multiplex (MPX) families. 139 MPX families recruited from AGRE, 189 MPX families recruited by the Autism Spectrum Disorders-Canadian-American Research Consortium (ASD-CARC)

Diagnosis:

Diagnosis of ASD. ADI-R and/or PDD Behavior Inventory (PDDBI) data available for all cases.

Malenfant P , et al. (2011)
Cohort Size: 664

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1400000

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

qPCR

Validation Method:

-

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: North American

7q11.23

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: 108
Age Max: 180
Average: 148

Male: 67
Female: 33
Unknown: -
CNV Size: 189650

Deletion: 2
Duplication: 1

Total CNV: 3
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

7q11.23

Description:

Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.

Diagnosis:

Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)

Mosrati MA , et al. (2012)
Cohort Size: 3

Age Min: 264
Age Max: 264
Average: 264

Male: -
Female: 100
Unknown: -
CNV Size: 5290

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanCyto12v2.0 BeadChip
Software: BeadStudio V3.3
Algorithm: QuantiSNP, PennCNV, VanillaICE
Geographical Ancestry: Tunisian

7q11.23

Description:

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

Diagnosis:

Diagnosis of schizophrenia based on meeting DSM-IV citeria

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

Age Min: 384
Age Max: 732
Average: 558

Male: 67
Female: 33
Unknown: -
CNV Size: 1441910

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

Solid phase hybridization

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

7q11.23

Description:

SCZ cases from the Bulgarian Trios Sample (n=554), the International Schizophrenia Consortium (ISC; n=3063), the Molecular Genetics of Schizophrenia (MGS) collaboration (n=3945), the Clinical Antipsychotic Trials of Intervention Effectiveness (CATIE) project (n=738), the UK/Wellcome Trust Case Control Consortium (WTCCC) (n=471), Japan (n=575), and Sweden (n=4379)

Diagnosis:

Diagnosis of schizophrenia or schizoaffective disorder

Mulle JG , et al. (2013)
Cohort Size: 13833

Age Min: 384
Age Max: 732
Average: 558

Male: 67
Female: 33
Unknown: -
CNV Size: 4050000

Deletion: N/A
Duplication: 9

Total CNV: N/A
Discovery Method:

Array SNP, solid phase hybridization

Validation Method:

None

Platform: Affymetrix 500K, Affymetrix 5.0, Affymetrix 6.0 SNP, Illumina OmniExpress
Software: -
Algorithm: -
Geographical Ancestry: Mixed

7q11.23

Description:

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

Diagnosis:

Cases assessed with ADI-R

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 589000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

7q11.23

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: 1437688

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR, MLPA, long-range PCR

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

7q11.23

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: 67
Female: 33
Unknown: -
CNV Size: 128732

Deletion: 3
Duplication: 4

Total CNV: 7
Discovery Method:

WES

Validation Method:

None

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

7q11.23

Description:

Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)

Diagnosis:

ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards

Qiao Y , et al. (2009)
Cohort Size: 100

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1500000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: NA

7q11.23

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: 67
Female: 33
Unknown: -
CNV Size: 30302

Deletion: 2
Duplication: 1

Total CNV: 3
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

7q11.23

Description:

Clinical, neuroimaging, and genetic evaluation of the first child of unrelated healthy parents

Diagnosis:

ASD; diagnosis of pervasive developmental disorder-not otherwise specified (PDD-NOS) according to DSM-IV-TR.

Prontera P , et al. (2014)
Cohort Size: 1

Age Min: 204
Age Max: 204
Average: 204

Male: 100
Female: -
Unknown: -
CNV Size: 1200000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, qPCR

Platform: BlueGnome CytoChip v3
Software: -
Algorithm: -
Geographical Ancestry: Italian

7q11.23

Description:

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

Diagnosis:

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

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

Age Min: 120
Age Max: 132
Average: 126

Male: 100
Female: -
Unknown: -
CNV Size: 1761290

Deletion: 0
Duplication: 2

Total CNV: 2
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

7q11.23

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: 1393387

Deletion: 3
Duplication: 4

Total CNV: 7
Discovery Method:

aCGH

Validation Method:

FISH

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

7q11.23

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: 347754

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

Solid phase hybridization

Validation Method:

None (not tested or failure to confirm by qPCR)

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

7q11.23

Description:

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

Diagnosis:

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

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

Age Min: 132
Age Max: 132
Average: 132

Male: 100
Female: -
Unknown: -
CNV Size: 1400000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

BACs aCGH or FISH

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

7q11.23

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: 68
Female: 32
Unknown: -
CNV Size: 1481762

Deletion: 2
Duplication: 14

Total CNV: 16
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

7q11.23

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: 12
Age Max: 36
Average: 24

Male: 50
Female: 50
Unknown: -
CNV Size: 1367000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

7q11.23

Description:

Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).

Diagnosis:

ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 1817000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

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

7q11.23

Description:

Nine French individuals with autistic disorder associated with Williams-Beuren syndrome (WBS).

Diagnosis:

Diagnosis of autism and Williams-Beuren syndrome (WBS). All cases fulfilled ICD-10 and DSM-IV diagnostic criteria for autistic disorder based on ADI-R (4-5 yr old period) and ADOS (current period). Diagnosis of WBS initially made with FISH probes for ELN gene. Mean full-scale IQ of cases: 42.4 2.1 (range 40-47).

Tordjman S , et al. (2012)
Cohort Size: 9

Age Min: 52
Age Max: 453
Average: 212.44444444444

Male: 56
Female: 44
Unknown: -
CNV Size: 1550000

Deletion: 9
Duplication: 0

Total CNV: 9
Discovery Method:

FISH

Validation Method:

QMPSF

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: French

7q11.23

Description:

Patients referred for aCGH analysis from 2008-present

Diagnosis:

Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)

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

Age Min: -
Age Max: -
Average: -

Male: 25
Female: 75
Unknown: -
CNV Size: 1900000

Deletion: 4
Duplication: 0

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

None

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

7q11.23

Description:

Patients referred to Guy's and St. Thomas NHS Foundation Trust from region pediatricians and other health specialists, as well as from genetics centers (UK).

Diagnosis:

Range of diagnoses including developmental delay (DD), intellectual disability, ASD (~1400 patients), ADHD, specific developmental delays such as speech or language delay, or multiple congenital anomalies/birth defects.

Tropeano M , et al. (2013)
Cohort Size: 10397

Age Min: 9
Age Max: 9
Average: 9

Male: 100
Female: -
Unknown: -
CNV Size: 1721582

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 60K
Software: Feature Extraction, DNA Analytics
Algorithm: -
Geographical Ancestry: 70% Caucasian, 15% African, 15% other/mixed ancestry

7q11.23

Description:

Two male patients originally recruited to participate in a genetic study of autism who were discovered, upon clinical and molecular examination, to have classic Williams-Beuren syndrome critical region (WBSCR) deletions

Diagnosis:

Diagnosis of autism (ASD) confirmed by ADI-R and ADOS ratings; cases fulfilled DSM-IV-TR and ICD-10 diagnostic criteria for autistic disorder. Intellectual disability (ID) determined by Wechsler Adult Intelligence Scale III (WAIS-III) and Kaufman Assessment Battery for Children (K-ABC). Diagnosis of Williams-Beuren syndrome (WBS) confirmed following clinical genetic examination.

Tordjman S , et al. (2013)
Cohort Size: 2

Age Min: 210
Age Max: 230
Average: 220

Male: 100
Female: -
Unknown: -
CNV Size: 1670000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

FISH

Validation Method:

Solid phase hybridization (Illumina)

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: France

7q11.23

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1234435

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP, solid phase hybridization

Validation Method:

None

Platform: One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
Software: Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada

7q11.23

Description:

Cases with neurodevelopmental disorders (NDD), including ASD, referred for clinical genetic testing in the United Kingdom [n=9650; Brain and Body Genetic Resource Exchange (BBGRE)] and Canada (n=9207; the Hospital for Sick Children, Toronto, Canada)

Diagnosis:

Cases present with one or more of the following reasons for referral for genetic testing: ASD (n=3541), developmental delay, neurocognitive disability, ADHD, psychoses and other behavioral abnormalities, speech/language delay, learning disability, motor delay, microcephaly, macrocephaly, structural brain abnormality, epilepsy/seizures, abnormal muscle tone, and other neurological problems.

Tropeano M , et al. (2016)
Cohort Size: 18857

Age Min: 240
Age Max: 240
Average: 240

Male: 33
Female: 67
Unknown: -
CNV Size: 1492130

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 60K, OGT Cytosure 4x180K
Software: Agilent Feature Extraction, Agilent Genomic Workbench, Agilent Feature Extraction v.10.7.11, OGT Cyt
Algorithm: ADM-2
Geographical Ancestry: United Kingdom and Canada

7q11.23

Description:

ASD cases from the Maudsley Adult Autism clinic discovery series (Maudsley Hospital, London, United Kingdom)

Diagnosis:

Diagnosis of ASD according to ICD-10 and confirmed using ADOS and ADI-R.

Tropeano M , et al. (2016)
Cohort Size: 90

Age Min: 240
Age Max: 240
Average: 240

Male: 33
Female: 67
Unknown: -
CNV Size: 879532

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

MLPA, aCGH

Platform: Agilent 60K
Software: Agilent Feature Extraction, Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: United Kingdom

7q11.23

Description:

Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts

Diagnosis:

Probands diagnosed with Tourette syndrome

Wang S , et al. (2018)
Cohort Size: 789

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1702710

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WES

Validation Method:

qPCR

Platform: Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
Software: CoNIFER
Algorithm: -
Geographical Ancestry: N/A

7q11.23

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: 1421098

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

7q11.23

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: 337255

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

Array SNP

Validation Method:

None

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

7q11.23

Description:

ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th

Diagnosis:

ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1514999

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WGS

Validation Method:

None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)

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

al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG0743

Clinical Profile:

Intellectual disability, dysmorphic features, maxillary hypoplasia, pleasant disposition and attention-deficit, clinodactyly, large dark brown macule on the back, growth retardation, left ectopic kidney, and bilateral inguinal hernia (Williams Syndrome). Non-consanguineous parents.

Cognitive Profile:

Intellectual disability

Al-Qattan SM , et al. (2014)
Primary Diagnosis: Intellectual disability

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 72820419
CNV End: 73489023
CNV Size: 668605
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL377P, SBDSP1, RN7SL625P, SPDYE7P, NSUN5P2, TRIM74, SPDYE9P, PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, POM121, STAG3L3, SPDYE8P, SPDYE11, SPDYE10P, GTF2IP4, TRIM50, FKBP6, BAZ1B, TYW1B, PMS2P7, GTF2IRD2P1

bartnik_12_EP_discovery_cases-case3

Clinical Profile:

Age of onset of epilepsy: 8 months. Seizure types/epilepsy syndrome: epilepsy with generalized tonic-clonic seizures (GTCS) and juvenile myoclonic epilepsy. Parental phenotype: Mother with mild intellectual disability.

Cognitive Profile:

Developmental delay

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

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 75536158
CNV End: 77194411
CNV Size: 1658254
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, FDPSP7, PMS2P11, SPDYE17, PMS2P9, FGL2, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, DTX2P1-UPK3BP1-PMS2P11, DTX2P1, UPK3BP1, SPDYE18, FAM185BP, HIP1, STYXL1, SRRM3, ZP3, CCDC146

beunders_13_DD/ID/ASD_discovery_cases-case16

Clinical Profile:

Clinical profile: N/A

Cognitive Profile:

Cognitive profile: N/A

Beunders G , et al. (2013)
Primary Diagnosis: DD/ID and/or MCA

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73330911
CNV End: 76392969
CNV Size: 3062059
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, PHBP6, PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, RCC1L, NCF1C, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2, CASTOR2, GTF2IRD2B, GTF2IP1, STAG3L1, HIP1, STYXL1, SRRM3, SPDYE5

brandler_18_ASD_discovery_cases-caseMT_14.3

Clinical Profile:

Case from REACH cohort

Cognitive Profile:

-

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

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73286049
CNV End: 74760870
CNV Size: 1474822
Validation Description: SNP VCF
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

brandler_18_ASD_replication_cases-caseAU2787301

Clinical Profile:

Case from MSSNG cohort

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 77539735
CNV End: 77540344
CNV Size: 610
Validation Description: No validation step reported
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: -
Genome Build: GRCh38
Gene Content: -

celestino-soper_11_ASD_discovery_cases-11303

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: 77607182
CNV End: 77610952
CNV Size: 3771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

depienne_07_ASD_discovery_cases-case1

Clinical Profile:

Diagnosis of autism (ADI-R critera). Score of 46 (severe autism) on Childhood Autism Rating Scale (CARS). Hyperactivity. Aggressive behavior. Stereotypic behavior. Severe language impairment. Poor visuospatial skills. Mild dysmorphic features: retrognathia, incomplete folding of the helix of both ears. Normal neurological exam. Psychomotor evaluation: walks awkwardly, delayed motor acquisition. Developmental milestones: sat at 15 mos., walked at 26 mos., first words at 3 yrs. Brain MRI shows mild dilation of left temporal horn & small arachnoid cyst in temporal fossa. Perinatal hypotonia. No cardiac anomalies. Other features include hyperacusis, hyperphagia, and paroxystic episodes. Growth parameters: height 145 cm, weight 36 kg (both -0.5 SD); head circumference 54.5 cm (50th %ile). Family history: mother with possible OCD.

Cognitive Profile:

Severe mental retardation; developmental delay (Psycho-Educational Profile-Revised developmental age of 2-3.5 yrs.)

Depienne C , et al. (2007)
Primary Diagnosis: ASD

Age: 12 yrs. 5 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: -
CNV End: -
CNV Size: 1500000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, CYLN2, GTF2IRD1

depienne_09_ASD_discovery_cases-proband

Clinical Profile:

Diagnosed with autistic disorder and mental retardation at 30 months (DSM-III criteria). Fulfilled ADI-R criteria for autism. CARS score of 46 (severe autism). Birth/neonatal history: born at term by C-section due to umbilical cord strangulation; normal Apgar score; perinatal hypotonia. Developmental milestones: delayed early development; sat at 15 months, walked at 26 months; severe language delay (pronounced first words at 3 yrs.). Developmental age (evaluated by Psycho-Educational Profile-Revised/PER-P): between 2-3.5 years. Vineland Adaptive Behavior Scale: communication, 1.9 yrs.; daily skills, 3.1 yrs.; socialization, 2.7 yrs. Severe language impairment: Reynell Developmental Language Scale assessment showed verbal comprehension score of 29 (equivalent to developmental age of 2.6 yrs.), lexical comprehension equivalent to 4-5 yrs., and understanding of sorting instructions equivalence of 4 yrs.; expressive language reduced to single, often unintelligible words, and expressive language scale showed age equivalence of <18 months. Behavioral/psychiatric characteristics: hyperactivity, aggressive behavior, numerous stereotypical behaviors, inability to express interest. Psychomotor evaluation: delayed motor acquistion. Neurological examination: normal but walks awkwardly. Poor visuospatial skills. Normal hearing (auditory evaluation at 18 months). EEG: inconclusive; unstructured rhythms but no synchronic activity. Brain MRI: mild dilatation of left temporal horn; small arachnoid cyst in temporal fossa. Other features: hypersensitivty to noise (hyperacusis); particular interest in food (hiding of food & hyperphagia); paroxystic episodes; day-time incontinence. Treatments: fluoxetine & thioridazine. Dysmorphic features: retrognathia, incomplete folding of the helix of both ears. Growth parameters: height, 145 cm (-0.5 SD); weight, 36 kg (-0.5 SD), head circumference, 54.5 cm (50th %ile). Family history: mother with possible OCD; healthy father and sister.

Cognitive Profile:

Developmental delay & severe mental retardation

Depienne C , et al. (2009)
Primary Diagnosis: Autism

Age: 12 yrs. 5 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: NA
CNV End: NA
CNV Size: 1500000
Validation Description: qPCR, FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: Unknown
Gene Content: FKBP6, FZD9, TBL2, STX1A, ELN, LIMK1, RFC2, CYLN2

dixit_12_ASD_discovery_cases-patient1

Clinical Profile:

Birth/neonatal history: birth weight, 2nd %ile. Developmental milestones: speech delay, gross motor delay. Language and communication evaluation: expressive speech delay; communication manily by grunting and pointing until 4 years; spoke only in very short phrases intelligible only to parents at 6 years. Motor and musculoskeletal evaluation: gross motor delay, hypotonia, joint laxity. Behavioral/psychiatric evaluation: autistic features. Epilepsy/seizures: no. Brain MRI: benign hydrocephalus. Other medical concerns and comorbidities: no. Dysmorphic features: broad forehead, high broad nose, posteriorly rotated ears, prominent ears, hypertelorism, straight brows, short philtrum, thin upper lip. Growth parameters: height, 25th %ile; weight, 50th %ile; head circumference, 91st %ile.

Cognitive Profile:

-

Dixit A , et al. (2012)
Primary Diagnosis: Autistic features + speech delay

Age: 5.75 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 1500000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

dixit_12_ASD_discovery_cases-patient2

Clinical Profile:

Case assessed for autism using ADOS and ADI-R (results NA). Birth/neonatal history: birth weight, 9th %ile. Developmental milestones: speech delay, gross and fine motor delay. Language and communication evaluation: expressive speech delay; formal speech and language assessment at 35 months revealed unintelligible 2-3 word phrases; low-average score for understanding of language on PLS-3 UK; use of nonverbal gestures. Motor and musculoskeletal evaluation: gross & fine motor delay, hypotonia, joint laxity. Behavioral/psychiatric evaluation: autistic features, aggression, ADHD. Epilepsy/seizures: no. Brain MRI: NA. Other medical concerns and comorbidities: cleft palate. Dysmorphic features: posteriorly rotated ears with overfolded helices, deep set eyes, hypertelorism, straight brows, short philtrum, thin upper lip. Growth parameters: height, 50th %ile; weight, 25th %ile; head circumference, 25th-50th %ile.

Cognitive Profile:

Non-verbal cognitive performance in normal range. Non-verbal cognitive performance on WPPSI-III UK (at age of 4 years 10 months): 93rd %ile.

Dixit A , et al. (2012)
Primary Diagnosis: Autistic features + speech delay

Age: 6.75 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 1200000
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

dixit_12_ASD_discovery_cases-patient3

Clinical Profile:

Case assessed for autism using ADOS and ADI-R (results NA). Birth/neonatal history: birth weight, 91st-98th %ile. Developmental milestones: speech delay. Language and communication evaluation: nasal speech, receptive speech delay; . Motor and musculoskeletal evaluation: mild joint laxity. Behavioral/psychiatric evaluation: autistic features, anxiety. Epilepsy/seizures: no. Brain MRI: NA. Other medical concerns and comorbidities: no. Dysmorphic features: broad forehead, high broad nose, low-set ears, deep set eyes, straight brows, short philtrum, thin upper lip. Growth parameters: height, 25th %ile; weight, 50th %ile; head circumference, 90th %ile.

Cognitive Profile:

Non-verbal cognitive performance in normal range

Dixit A , et al. (2012)
Primary Diagnosis: Autistic features + speech delay

Age: 9.5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: 1442000
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

dixit_12_ASD_discovery_cases-patient4

Clinical Profile:

Birth/neonatal history: birth weight, 91st-98th %ile. Developmental milestones: speech delay, gross motor delay. Language and communication evaluation: expressive and receptive speech delays. Motor and musculoskeletal evaluation: gross motor delay, hypotonia, joint laxity. Behavioral/psychiatric evaluation: autistic features, trichophagy and pica. Epilepsy/seizures: no. Brain MRI: NA. Other medical concerns and comorbidities: serous otitis media (OM), gastroesophageal reflux disease (GERD). Dysmorphic features: broad forehead, high broad nose, low-set ears, posteriorly rotated ears, prominent ears, hypertelorism, straight brows, short philtrum. Growth parameters: height, 2nd %ile; weight, 91st %ile ;head circumference, 75th %ile.

Cognitive Profile:

-

Dixit A , et al. (2012)
Primary Diagnosis: Autistic features + speech delay

Age: 2.5 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

dixit_12_ASD_discovery_cases-patient5

Clinical Profile:

Birth/neonatal history: birth weight, 25th %ile. Developmental milestones: speech delay, gross motor delay. Language and communication evaluation: expressive and receptive speech delays. Motor and musculoskeletal evaluation: gross motor delay, hypotonia, joint laxity. Behavioral/psychiatric evaluation: autistic features, other behavioral problems. Epilepsy/seizures: no. Brain MRI: NA. Other medical concerns and comorbidities: serous otitis media (OM). Dysmorphic features: broad forehead, deep set eyes, straight brows, short philtrum. Growth parameters: height, 9th %ile; weight, 50th %ile; head circumference, 9th-25th %ile.

Cognitive Profile:

-

Dixit A , et al. (2012)
Primary Diagnosis: Autistic features + speech delay

Age: 2.75 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: NA
CNV End: NA
CNV Size: NA
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: NCBI36
Gene Content: -

dixit_12_ASD_discovery_cases-patient6

Clinical Profile:

Birth/neonatal history: birth weight, 9th-25th %ile. Developmental milestones: speech delay, mild motor delay. Language and communication evaluation: severe expressive speech delay; used only minimal nonverbal gestures to reply to direct questioning by examiners, but reported to verbally converse with others. Motor and musculoskeletal evaluation: mild motor delay, joint laxity. Behavioral/psychiatric evaluation: autistic features, anxiety, ADHD. Epilepsy/seizures: no. Brain MRI: prominent Virchow-Robin spaces. Other medical concerns and comorbidities: undescended testes; bone age was delayed 3 years compared to chronological age. Dysmorphic features: broad forehead, high broad nose, posteriorly rotated ears, prominent ears, hypertelorism, straight brows, thin upper lip. Growth parameters: height, <<0.4th %ile; weight, <0.4th %ile; head circumference, 0.4th %ile.

Cognitive Profile:

-

Dixit A , et al. (2012)
Primary Diagnosis: Autistic features + speech delay

Age: 16 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73286441
CNV End: 75415260
CNV Size: 2128820
Validation Description: MLPA
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, PHBP6, PMS2P10, SPDYE14P, SPDYE15P, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, RCC1L, NCF1C, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2, CASTOR2, GTF2IRD2B, GTF2IP1, STAG3L1

dixit_12_ASD_discovery_cases-patient7

Clinical Profile:

Birth/neonatal history: birth weight, >99.6th %ile. Developmental milestones: speech delay, gross motor delay. Language and communication evaluation: expressive speech delay. Motor and musculoskeletal evaluation: gross motor delay, hypotonia, joint laxity. Behavioral/psychiatric evaluation: autistic features, aggression. Epilepsy/seizures: no. Brain MRI: NA. Other medical concerns and comorbidities: no. Dysmorphic features: broad forehead, high broad nose, low-set ears with overfolded helices, deep set eyes, hypertelorism, straight brows, short philtrum, thin upper lip. Growth parameters: height, 9th-25th %ile; weight, 50th-75th %ile; head circumference, 91st-98th %ile. Family history: mother with history of learning difficulties, IQ assessment of 50, normal speech and no history of speech or motor delay, and very shy behavior (no history of autism or behavioral difficulties); grandmother with low-normal intelligence and normal speech (also had 7q11.23 duplication)

Cognitive Profile:

-

Dixit A , et al. (2012)
Primary Diagnosis: Autistic features + speech delay

Age: 3 yrs.

Gender: F
Primary Disorder Inheritence: Possibly maternal

Family Profile: Unknown
CNV Start: 73338061
CNV End: 76939747
CNV Size: 3601687
Validation Description: FISH
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, PHBP6, PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, RCC1L, NCF1C, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2, CASTOR2, GTF2IRD2B, GTF2IP1, STAG3L1, HIP1, STYXL1, SRRM3, ZP3, SPDYE5

earhart_16_ASD_discovery_cases-patient1

Clinical Profile:

Data supported ASD diagnosis (ADOS-2 N/A; reciprocal social symptoms and repetitive/stereotyped behavior symptoms present). Developmental milestones: history of language delay. Langauge and communication evaluation: ABAS scaled score of 9. Behavioral/psychiatric evaluation: evaluation via Achenbach behavior rating scale showed externalizing behavior T-score of 61 and internalizing behavior T-score of 77 (clinically signifcant/at risk); reports of significant anxiety, preoccupation with order and details, social challenges, and continued communication difficulties. Additional medical history: complaint of heart palpitations, migraines. Dysmorphic features: broad forehead, broad nose. Growth parameters: macrocephaly.

Cognitive Profile:

Cognitive evaluation by Bateria III Woodcock and Munoz-Sandoval showed standard score of 73 (clinically significant/at risk). ABAS general adaptive composite score of 109.

Earhart BA , et al. (2016)
Primary Diagnosis: ASD

Age: 34 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1500000
Validation Description: No CNV validation reported
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -

earhart_16_ASD_discovery_cases-patient2

Clinical Profile:

Data supported ASD diagnosis at 5 years (ADOS-2 score of 6 [moderate]; qualitative communication symptoms, reciprocal social symptoms, and repetitive/stereotyped behavior symptoms present). Developmental milestones: language delay. Lanaguge and communication evaluation: ABAS scaled score of 3 (clinically significant/at risk). Motor and musculoskeletal evaluation: joint hyperextensibility; three arm fractures; short neck. Behavioral/psychiatric evaluation: evaluation via Behavioral assessment scale for children 2nd edition showed externalizing behavior T-score of 72 (clinically significant/at risk) and internalized behavior T-score of 55; hyperactivity; inattention. Additional medical history: frequent headaches; astigmatism; sleep problems. Dysmorphic features: broad prominent forehead, upslanting palpebral fissures, broad nose, prominent and dysplastic ears. Growth parameters: macrocephaly (head circumference 97th %ile).

Cognitive Profile:

Cognitive evaluation by Leiter-R showed standard score of 83 (clinically significant/at risk). ABAS general adaptive composite score of 56 (clinically significant/at risk).

Earhart BA , et al. (2016)
Primary Diagnosis: ASD

Age: 6 yrs.

Gender: F
Primary Disorder Inheritence: Paternal

Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1500000
Validation Description: No CNV validation reported
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -

earhart_16_ASD_discovery_cases-patient3

Clinical Profile:

Data supported ASD diagnosis at 3 years (ADOS-2 score of 8 [high]; qualitative communication symptoms, reciprocal social symptoms, and repetitive/stereotyped behavior symptoms present). Developmental milestones: langauge delay; motor delay. Lanaguge and communication evaluation: ABAS scaled score of 1 (clinically significant/at risk); absent speech. Motor and musculoskeletal evaluation: decreased tone in legs (mild hypotonia of lower extremities and trunk); mild kyphosis of the upper spine; short neck. Behavioral/psychiatric evaluation: evaluation via Behavioral assessment scale for children 2nd edition showed externalizing behavior T-score of 64 and internalized behavior T-score of 62. Additional medical history: headaches; strabismus; asthma. Dysmorphic features: broad prominent forehead, lop ears, dolicocephaly, hydrocephalus. Growth parameters: macrocephaly (head circumference +2.5 SD).

Cognitive Profile:

Cognitive evaluation by Leiter-R showed standard score of 89. ABAS general adaptive composite score of 43 (clinically significant/at risk).

Earhart BA , et al. (2016)
Primary Diagnosis: ASD

Age: 5 yrs.

Gender: F
Primary Disorder Inheritence: Paternal

Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1500000
Validation Description: No CNV validation reported
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -

earhart_16_ASD_discovery_cases-patient4

Clinical Profile:

Data supported ASD diagnosis at 19 months (ADOS-2 score of 4 [low]; qualitative communication symptoms, reciprocal social symptoms, and repetitive/stereotyped behavior symptoms present). Developmental milestones: langauge delay. Lanaguge and communication evaluation: ABAS scaled score of 3 (clinically significant/at risk). Motor and musculoskeletal evaluation: joint hyperextensibility of elbows and hands; out-toeing; ; one bone fracture (foot at age of 4 years); short neck bent to the left. Behavioral/psychiatric evaluation: evaluation via Behavioral assessment scale for children 2nd edition showed externalizing behavior T-score of 86 (clinically significant/at risk) and internalized behavior T-score of 68; hyperactivity; inattention. Additional medical history: dilated aortic root and ascending aorta detected by echocardiogram; sleepwalking. Dysmorphic features: broad prominent forehead, broad nose, synophrys; posteriorly rotated and low-set ears.

Cognitive Profile:

Cognitive evaluation by Leiter-R showed standard score of 81 (clinically significant/at risk). ABAS general adaptive composite score of 48 (clinically significant/at risk).

Earhart BA , et al. (2016)
Primary Diagnosis: ASD

Age: 3 yrs.

Gender: F
Primary Disorder Inheritence: Paternal

Family Profile: Multi-generational
CNV Start: N/A
CNV End: N/A
CNV Size: 1500000
Validation Description: No CNV validation reported
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -

earhart_16_ASD_discovery_cases-patient5

Clinical Profile:

Data supported ASD diagnosis (ADOS-2 score of 4 [low] at 31 months; qualitative communication symptoms, reciprocal social symptoms, and repetitive/stereotyped behavior symptoms present). Developmental milestones: language delay; motor delay (sitting at 8 months, first steps at 16 months). Lanaguge and communication evaluation: ABAS scaled score of 7 (clinically significant/at risk). Motor and musculoskeletal evaluation: joint hyperextensbility; one bone fracture (elbow at 13 months); short neck. Behavioral/psychiatric evaluation: evaluation via Infant toddler social-emotional assessment showed externalizing behavior T-score of 48 and internalized behavior T-score of 70 (clinically significant/at risk). EEG: asymmetric background activities noted after seizure-like activity. Brain imaging: generalized white matter loss with dilatation of the lateral ventricles (left more than right) and evidence of nonspecific old white matter injury noted along the periventricular white matter and high parietal lobe on MRI. Additional medical history: dilated ascending aorta detected on echocardiogram; sleep apnea; adenotonsillar hypertrophy. Dysmorphic features: facial asymmetry, broad forehead, fleshy nose with large nostrils, crumpled antihelix of ear, prominent metopic suture, ocular hypertelorism, small palpebral fissures, epicanthal folds, undescended testes. Growth parameters: macrocephaly (head circumference of 49.5 cm at 15 months [98th %ile]). Additional genetic evaluation: karyotype of 47,XYY.

Cognitive Profile:

Cognitive evaluation by Bayley scales of infant and toddler development 3rd edition showed standard score of 80 (clinically significant/at risk). ABAS general adaptive composite score of 79 (clinically significant/at risk).

Earhart BA , et al. (2016)
Primary Diagnosis: ASD

Age: 17 mos.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Multi-generational
CNV Start: 72511021
CNV End: 74356771
CNV Size: 1779800
Validation Description: No CNV validation reported
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multi-generational
Genome Build: Unknown
Gene Content: -

edelmann_07_ASD_discovery_cases-patient41A

Clinical Profile:

Criteria for diagnosis of autism met in all three domains of ADI-R; criteria for diagnosis of autism met in social, play, and restricted behaviors domain for ADOS (2 points below cut-off score in communication domain). Birth/neonatal history: pregnancy marked by bleeding in 1st and 3rd trimester; delivered at term without complications; born with orbital hemangioma that required surgery. Developmental milestones: no social smile until 1 year old; delayed acquisition of phrase speech (3.5 years); development of sphincter control at 42 months; other motor milestones generally normal or only mildly delayed. Beahvioral/psychiatric characteristics: aggression against peers and other disruptive behavior required removal from school; interest in music and certain sounds, but no evidence of hyperacusis; smiles easily, superficially friendly with strangers; exhibits minimal social reciprocation; excessive non-social anxiety; moderately severe attention deficits. Cardiac defects: none. Dysmorphic features: asymmetrical, abnormally shaped external ears, most prominent on the left side; iatrogenic strabismus due to robital hemangioma; widely spaced teeth; wide mouth; prominent lips. Growth parameters: height, 120 cm (50th %ile); weight, 21 kg (50th %ile); head circumference, 51 cm (50th %ile). Family history: younger male sibling in good health. Patient did not display many cardinal medical features of Williams-Beuren syndrome, such as cardiac defects, joint laxity, and other dysmorphic features.

Cognitive Profile:

Wechsler Preschool and Primary Scale of Intelligence-3rd edition: verbal IQ of 53, performance IQ of 57, full-scale composite IQ of 49. Leiter-R IQ of 67. Extreme weakness of visuospatial construction. Vineland Adaptive Behavioral Scales: adaptive behavior composite score, 50; communication skills score, 44; daily living skills score, 64; social skills score, 54.

Edelmann L , et al. (2006)
Primary Diagnosis: Autism

Age: 6 yrs. 6 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: NA (approximate start, 73354892)
CNV End: NA (approximate end, 75789370)
CNV Size: NA (approximately 2.4 Mb)
Validation Description: FISH, qPCR, microsatellite analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo, paternal chromosome
Family Profile: Simplex
Genome Build: NCBI35
Gene Content: GTF2IRD1, GTF2I, NCF1, GTF2IRD2, GATSL1, WBSCR16, GTF2IRD2B, GATSL2, TRIM73, TRIM74, POM121C, SPDYE5, HIP1, CCL26, CCL24, RHBDD2, POR, TMEM120A, STYXL1, MDH2, SRRM3, HSPB1, YWHAG, SRCRB4D, ZP3, DTX2, UPK3B

engchuan_15_ASD_discovery_cases-case14298_4190

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 76482621
CNV End: 76615165
CNV Size: 132545
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPDYE16, DTX2, UPK3B, POMZP3

engchuan_15_ASD_discovery_cases-case3173_3

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 76803016
CNV End: 77123097
CNV Size: 320082
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: FDPSP7, PMS2P11, SPDYE17, PMS2P9, DTX2P1-UPK3BP1-PMS2P11, DTX2P1, UPK3BP1, SPDYE18, FAM185BP, CCDC146

engchuan_15_ASD_discovery_cases-case3567_4

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 76547558
CNV End: 76680425
CNV Size: 132868
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case4158_1

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 72948146
CNV End: 73743731
CNV Size: 795586
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: NSUN5P2, TRIM74, SPDYE9P, PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, POM121, STAG3L3, SPDYE8P, SPDYE11, SPDYE10P, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, PMS2P7, GTF2IRD2P1

engchuan_15_ASD_discovery_cases-case5452_3

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 72704659
CNV End: 72938827
CNV Size: 234169
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: RN7SL377P, SBDSP1, RN7SL625P, SPDYE7P, POM121, TYW1B

engchuan_15_ASD_discovery_cases-case8446_201

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73292487
CNV End: 74729839
CNV Size: 1437353
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

engchuan_15_ASD_discovery_cases-case8532_201

Clinical Profile:

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

Cognitive Profile:

-

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 76502756
CNV End: 76734569
CNV Size: 231814
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SPDYE16, DTX2, UPK3B, POMZP3

firouzabadi_16_ASD_discovery_cases-patient6

Clinical Profile:

Case met DSM5 criteria for ASD and was diagnosed by pediatric neurologists specializing in autism. Additional medical history: gastrointestinal problems. Dysmorphic features: dysmorphic facial features.

Cognitive Profile:

Intellectual disability

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

Age: 13 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 73008759
CNV End: 73352334
CNV Size: 343576
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPDYE9P, PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, SPDYE8P, SPDYE11, SPDYE10P, GTF2IP4, TRIM50, FKBP6, PMS2P7, GTF2IRD2P1

fusco_13_ID_discovery_cases-WBS154

Clinical Profile:

Neuropsychological evaluation: lexical production, 10.0 yrs. (Boston Naming Test, +3.6 yr difference from mental age); lexical comprehension, 11.0 yrs. (Peabody Picutre Vocabulary Test, +4.6 yr difference from mental age); sentence comprehension, not determined; noverbal abilties, 5.6 yrs. (Developmental Test of Visuo-Motor Integration/VMI, -1.0 yr difference from mental age). Vineland Adaptive Behavior Scales evaluation: communication, 13.2 yrs. (+7.2 yr difference from mental age); daily living, 3.1 yrs. (-3.5 yr difference from mental age); socialization, 7.10 yrs. (+1.4 yr difference from mental age); motor skills, not determined. Birth/neonatal history: born by C-section at 42th week of uneventful gestation; birth weight 3460 g, length 50.5 cm, head circumference 34.4 cm; Apgar scores of 8 (at 1 min) and 9 (at 5 mins). Developmental milestones: delayed. Language and communication evaluation: linguistic abilities and some features of adaptive abilities (communication & socialization) more proficient than those predicted on basis of mental age. Behavioral/psychiatric evaluation: anxiety, attention deficit hyperactivity disorder (ADHD). Other features: kyphosis & subluxation of both rotulae moted at 13 years of age. Dysmorphic features: mild facial features of Williams-Beuren syndrome, incluidng mild malar hypoplasia and thick lips; strabismus (treated with eye occlusion and lens). Growth parameters: weight of 52 kg (25th-50th %ile), height of 160 cm (25th-50th %ile), and head circumference of 54 cm (25th-50th %ile). Family history: first child of healthy non-consanguineous paretns (mother was 32 and father 35 at time of birth), unremarkable family history.

Cognitive Profile:

Moderate ID; mental age of 6.6 years; score of 43 on WISC-III; verbal IQ 50, performance IQ 49.

Fusco C , et al. (2013)
Primary Diagnosis: ID and ADHD

Age: 15.0 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Possible simplex
CNV Start: 73678244
CNV End: 74727155
CNV Size: 1048912
Validation Description: aCGH and qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Possible simplex
Genome Build: GRCh38
Gene Content: DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

fusco_13_ID_discovery_cases-WBS160

Clinical Profile:

Neuropsychological evaluation: lexical production, 3.6 yrs. (Boston Naming Test, +0.6 yr difference from mental age); lexical comprehension, 4.0 yrs. (Peabody Picutre Vocabulary Test, +1.0 yr difference from mental age); sentence comprehension, 3.0 yrs. (grammar comprehension test, 0 yr difference from mental age); noverbal abilties, 5.0 yrs. (Praxic and Coordination Evaluation Test/PCET, +2 yr difference from mental age). Vineland Adaptive Behavior Scales evaluation: communication, 3.11 yrs. (+0.11 yr difference from mental age); daily living, 2.11 yrs. (-0.1 yr difference from mental age); socialization, 3.2 yrs. (+0.2 yr difference from mental age); motor skills, 2.6 yrs. (-0.6 yr difference from mental age). Birth/neonatal history: born by vaginal delivery at term after uneventful pregnancy; birth weight 2700 g, length 48 cm, head circumference 34 cm; feeding difficulties referred during first year of life. Lanaguge and communication evaluation: coarse voice. Motor and musculoskeletal evaluation: scoliosis. Behavioral/psychiatric evaluation: anxiety, obsessive behavior. Epilepsy/seizures: pharmacologically treated for tonic-clonic epilepsy from age of 2 years with antiepileptics (Lamotrigine). Brain imaging: normal cerebral MRI and cerebral ultrasound. Dysmorphic features: truncal obesity, microcephaly, strabismus, facial anomalies characteristic of Williams-Beuren syndrome (periorbital fullness, epicanthal folds, stellate iris, malar flattening, short nose with anteverted nares, long philtrum, large mouth with thick lips), small teeth with dental malocclusion. Growth parameters: weight of 70 kg (90th %ile), height of 148 cm (<3rd %ile), head circumference of 50 cm (<3rd %ile). Family history: only child of healthy non-consanguineous parents (mother was 32 and father 34 at time of birth).

Cognitive Profile:

Severe ID; mental age of 3.0 years; score of 36 on Leiter International Performance Scale-Revised LIPS-R

Fusco C , et al. (2013)
Primary Diagnosis: ID and epilepsy

Age: 14.6 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 73002509
CNV End: 77066719
CNV Size: 4064211
Validation Description: aCGH and qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SPDYE9P, PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, PHBP6, PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, FDPSP7, PMS2P11, SPDYE17, PMS2P9, STAG3L3, SPDYE8P, SPDYE11, SPDYE10P, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, RCC1L, NCF1C, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, DTX2P1-UPK3BP1-PMS2P11, DTX2P1, UPK3BP1, SPDYE18, PMS2P7, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2, CASTOR2, GTF2IRD2B, GTF2IP1, STAG3L1, HIP1, STYXL1, SRRM3, ZP3, SPDYE5

fusco_13_ID_discovery_cases-WBS166

Clinical Profile:

Neuropsychological evaluation: lexical production, 6.0 yrs. (Boston Naming Test, +3.0 yr difference from mental age); lexical comprehension, 4.5 yrs. (Peabody Picutre Vocabulary Test, +1.5 yr difference from mental age); sentence comprehension, 5.8 yrs. (grammar comprehension test, +2.8 yr difference from mental age; noverbal abilties, 4.10 yrs. (Developmental Test of Visuo-Motor Integration/VMI, +1.10 yr difference from mental age). Vineland Adaptive Behavior Scales evaluation: communication, 6.6 yrs. (+3.6 yr difference from mental age); daily living, 8.3 yrs. (+5.3 yr difference from mental age); socialization, 8.0 yrs. (+5.0 yr difference from mental age); motor skills, 5.2 yrs (+3.2 yr difference from mental age). Birth/neonatal history: born by C-section at term of uneventful pregnancy; birth weight 3200 g, length 50.5 cm, head circumference 35 cm; Apgar scores of 8 (at 1 min) and 9 (5 min); congenital heart defect diagnosed in first days of life (echocardiography showed SVAS, which was opreated at 12 months of age, and mild peripheral pulmonary stenosis). Developmental milestones: delayed. Other features: hypertension needing pharmacological treatment diagnosed at 3 years of age. Dysmorphic features: mild atypical features of Williams-Beuren syndrome, including flat face, narrow palpebral fissures, malar hypoplasia, thick everted lower lip, low-set ears, narrow shoulders. Growth parameters: weight of 28 kg (90th %ile), height of 126 cm (90th-97th %ile), and head circumference of 49.8 cm (10th %ile) at age of 6 years. Family history: third child of healthy non-consanguineous parents (mother was 29 and father 31 at time of birth); deceased older brother (following cardiac surgery for transposition of the great arteries with ventricular septal defect).

Cognitive Profile:

Moderate ID; mental age of 3.0 years; score of 46 on WISC-III; verbal IQ 56, performance IQ 48.

Fusco C , et al. (2013)
Primary Diagnosis: ID

Age: 6.6 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Possible simplex
CNV Start: 73560629
CNV End: 74590985
CNV Size: 1030357
Validation Description: aCGH and qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Possible simplex
Genome Build: GRCh38
Gene Content: TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1

fusco_13_ID_discovery_cases-WBS179

Clinical Profile:

Neuropsychological evaluation: lexical production, 1.5 yrs. (MacArthur Bates Communicative Development Inventory/CDI, -1.8 yr difference from mental age); lexical comprehension, 1.5 yrs. (MacArthur Bates Communicative Development Inventory/CDI, -1.8 yr difference from mental age); sentence comprehension, 2.0 yrs. (first language test, -1.3 yr difference from mental age); noverbal abilties, 2.0 yrs. (Visual Manual Coordination subtest of Griffith Scales of Mental Development/VMC, 1.3 yr difference from mental age). Vineland Adaptive Behavior Scales evaluation: communication, 2.2 yrs. (-1.1 yr difference from mental age); daily living, 2.8 yrs. (-0.5 yr difference from mental age); socialization, 2.2 yrs. (-2.2 yr difference from mental age); motor skills, 3.3 yrs. (0 yr difference from mental age). Birth/neonatal history: born by C-section at term of pregnancy; IUGR revealed by ultrasound after 34th week; birth weight 2840 g, length 47 cm, head circumference 33 cm; Apgar scores of 6 (at 1 min) and 8 (at 5 min); congenital heart defect diagnosed shortly after birth (echocardiography showed valvular & supravalvular pulmonary stenosis with mild peripheral pulmonary stenosis); feeding difficulties referred duirng first 2 years of life. Developmental milestones: delayed; able to walk alone at 27 months, first words at 42 months. Behavioral/psychiatric evaluation: aggressivity, acts of self-injury, social communication problems, stereotypies, hyperactivity/impulsivity, and temper tantrums; clinical results on syndromic scale 'withdrawn' and 'pervasive developmental disorder' obtained on child behavior checklist; critical scores for pervasive developmental disorder (PDD) derived also from Social Communication Questionnaire and for ADHD from Conners Scale. Cardiac evaluation: echocardiography at age of 5 years showed mild suprapulmonary stenosis. Dysmorphic features: microcephaly, typical facial anomalies of Williams-Beuren syndrome (periorbital fullness, epicanthal folds, stellate iris, flat nasal bridge, anteverted nares, large mouth with thick lips, small teeth, umbilical hernia, bilateral convergent strabismus (operated at age of 4 years). Growth parameters: weight <3rd %ile, height of 101 cm (3rd-10th %ile), and head circumference of 47.5 cm (<3rd %ile). Family history: second child of healthy consanguineous parents (mother was 33 and father 34 at time of birth).

Cognitive Profile:

Severe ID; mental age of 3.3 years; score of 39 on Griffiths Scale of Mental Developmental (GSMD).

Fusco C , et al. (2013)
Primary Diagnosis: ID, PDD, and ADHD

Age: 5.5 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Possible simplex
CNV Start: 73166840
CNV End: 77080283
CNV Size: 3913444
Validation Description: aCGH and qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Possible simplex
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, PHBP6, PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, FDPSP7, PMS2P11, SPDYE17, PMS2P9, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, RCC1L, NCF1C, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, DTX2P1-UPK3BP1-PMS2P11, DTX2P1, UPK3BP1, SPDYE18, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2, CASTOR2, GTF2IRD2B, GTF2IP1, STAG3L1, HIP1, STYXL1, SRRM3, ZP3, SPDYE5

gannon_11_ASD/DD_discovery_cases-patientG

Clinical Profile:

Dysmorphic features: unknown

Cognitive Profile:

IQ unknown

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

Age: -

Gender: -
Primary Disorder Inheritence: -

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

gannon_11_ASD/DD_discovery_cases-patientH

Clinical Profile:

Dysmorphic features: unknown

Cognitive Profile:

IQ unknown

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

Age: -

Gender: -
Primary Disorder Inheritence: -

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

girirajan_11_ASD_discovery_cases-Si203

Clinical Profile:

ADOS score: 7. Vineland composite score: 79.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 71; Verbal IQ, 73; Non-verbal IQ, 75.

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

Age: 7

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 76407830
CNV End: 76517882
CNV Size: 110053
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FDPSP2, SSC4D, DTX2, UPK3B, ZP3

girirajan_11_ASD_discovery_cases-Si318

Clinical Profile:

ADOS score: 7. Vineland composite score: 68.

Cognitive Profile:

No mental retardation/intellectual disability. Full-scale IQ, 83; Verbal IQ, 89; Non-verbal IQ, 80.

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

Age: 12

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 76443240
CNV End: 76917705
CNV Size: 474466
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: FDPSP2, SPDYE16, DTX2, UPK3B, POMZP3

girirajan_11_ASD_discovery_cases-Si66

Clinical Profile:

ADOS score: 7. Vineland composite score: 64.

Cognitive Profile:

Moderate mental retardation/intellectual disability. Full-scale IQ, 53; Verbal IQ, 50; Non-verbal IQ, 59.

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

Age: 9

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 76586548
CNV End: 76917705
CNV Size: 331158
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -

girirajan_12_ASD/DD/ID_discovery_cases-case2049

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2050

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2051

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2052

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2053

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2054

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2055

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2056

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2057

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2058

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2059

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2060

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2061

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2062

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2063

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2064

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2065

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2066

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2067

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2068

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2069

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2070

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2071

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2072

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2073

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2074

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2075

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2076

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2077

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2078

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2079

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2080

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2081

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2082

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2083

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2084

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2085

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2086

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2087

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2088

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2089

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2090

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2091

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2092

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2093

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2094

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2095

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2096

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2097

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2098

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2099

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2100

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2101

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2102

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2103

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2104

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2105

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2106

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2107

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2108

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2109

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2110

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2111

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2112

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2113

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2114

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2115

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2116

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2117

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2118

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2119

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2120

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2121

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2122

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2123

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2124

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2125

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2126

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2127

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2128

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2129

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2130

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2131

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2132

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2133

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2134

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2135

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2136

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2137

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2138

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2139

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2140

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2141

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case21414

Clinical Profile:

Mild motor delay, speech delay, hoarse voice. Normal tone. Dysmorphic features: periorbital fullness, flat nasal bridge, upturned nose, bilateral epicanthal folds, stellate irides, wide-spaced small teeth, full lower lips. Congenital anomalies: congenital heart defects (supravulvular aortic and pulmonic stenosis, hypoplastic pulmonary arteries, moderate mitral valve prolapse (MVP), ventricular hypertrophy. Other features: ankyloglossia, deceased after a post-surgical stroke. Growth parameters: weight 25th-50th %ile, height 75th %ile, OFC 5th-10th %ile. Family history: brother with mild speech delay; father with tall stature, learning disability, manic depressive illness and MVP.

Cognitive Profile:

Developmental delay

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

Age: 2 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2142

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2143

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2144

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2145

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2146

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2147

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2148

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2149

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2150

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2151

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2152

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2153

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2154

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2155

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2156

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2157

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2158

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case2159

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case24219

Clinical Profile:

Severe speech delays. Hypotonia. Febrile seizure. Unilateral hearing loss. High pain tolerance. Dysmorphic features: bilateral ptosis. Congenital anomalies: Duane syndrome, patent ductus arteriosus. Other features: hemihypertrophy, chronic low-grade fevers. Growth parameters: weight >99th %ile, height 61st %ile, OFC 50th %ile. Family history: father has ADHD, congenital cataracts, chronic fevers, and speech delay.

Cognitive Profile:

Developmental delay

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

Age: 2 yrs. 8 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case27419

Clinical Profile:

Multiple congenital anomalies (MCA), dysmorphic features, failure to thrive, congenital stenosis of aortic valve

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case36775

Clinical Profile:

Severe speech delay. Mild hypotonia. Acquired Chiari I malformation but initially small cerebellum. Gait ataxia. Dysmorphic features: broad brow, bitemporal narrowing, periorbital fullness, short nose, full nasal tip, malar hypoplasia, long philtrum, full lips, wide mouth. Congenital anomalies: coarcation of aorta. Other features: post-surgical cranial neuropathies; esotropia; G-tube, gastroesophageal reflux disease (GERD). Growth parameters: weight 30th %ile, height 30th %ile, OFC 40th %ile. Family history: mother, father, and twin sister healthy.

Cognitive Profile:

Moderate-severe global developmental delay; at 3 years testing 9-13 mos. Developmentally; below average cognition.

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

Age: 3 yrs. 2 mos.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case37873

Clinical Profile:

Poor speech. Dysmorphic features: frontal bossing, low-set ear with notched helix, broad nasal root, prominent central incisors, ptosis. Growth parameters: weight >95th %ile, height 25th %ile, OFC +4.0 SD. Family history: father with macrocephaly; mother has similar ears.

Cognitive Profile:

Developmental delay

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

Age: 4 yrs. 10 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case38663

Clinical Profile:

Dysmorphic features

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case40354

Clinical Profile:

Decreased speech. Behavioral problems: stereotypies, usually quiet and shy but sometimes overly friendly, noise aversion. Normal tone. Normal MRI. Dysmorphic features: low anterior hairline, short philtrum, full lips, skin tags on neck, spots on tongue. Congenital anomalies: radioulnar synostosis; PIP finger camptodactyly. Growth parameters: small for gestational age; weight >95th %ile, height 10th-25th %ile, OFC +1.6 SD. Family history: healthy mother.

Cognitive Profile:

Moderate ID; developmental delay

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

Age: 14 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case42275

Clinical Profile:

Encephalopathy

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case51967

Clinical Profile:

Delayed developmental milestones

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: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_12_ASD/DD/ID_discovery_cases-case60452

Clinical Profile:

Tetralogy of Fallot (TOF), speech delay

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 73328061
CNV End: 74727726
CNV Size: 1399666
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_13a_ASD_discovery_cases-11154.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: 73333654
CNV End: 74722326
CNV Size: 1388673
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

girirajan_13a_ASD_discovery_cases-12594.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: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_ASD_discovery_cases-14032.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: 75462935
CNV End: 76450866
CNV Size: 987932
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, HIP1, STYXL1, SRRM3, ZP3, SPDYE5

girirajan_13a_ASD_discovery_cases-14484.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: 75275760
CNV End: 77137472
CNV Size: 1861713
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, FDPSP7, PMS2P11, SPDYE17, PMS2P9, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, DTX2P1-UPK3BP1-PMS2P11, DTX2P1, UPK3BP1, SPDYE18, FAM185BP, STAG3L1, HIP1, STYXL1, SRRM3, ZP3, CCDC146, SPDYE5

girirajan_13a_ASD_discovery_cases-AU022704

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: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_ASD_discovery_cases-AU030804

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: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase112

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase113

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase114

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase115

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase116

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase117

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase118

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase119

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase120

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase121

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase122

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase123

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase124

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase125

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase126

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase127

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 73168588
CNV End: 74839100
CNV Size: 1670513
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

girirajan_13a_DD_discovery_cases-DDcase128

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 75275760
CNV End: 77137472
CNV Size: 1861713
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, FDPSP7, PMS2P11, SPDYE17, PMS2P9, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, DTX2P1-UPK3BP1-PMS2P11, DTX2P1, UPK3BP1, SPDYE18, FAM185BP, STAG3L1, HIP1, STYXL1, SRRM3, ZP3, CCDC146, SPDYE5

girirajan_13a_DD_discovery_cases-DDcase129

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 75275760
CNV End: 77137472
CNV Size: 1861713
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, FDPSP7, PMS2P11, SPDYE17, PMS2P9, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, DTX2P1-UPK3BP1-PMS2P11, DTX2P1, UPK3BP1, SPDYE18, FAM185BP, STAG3L1, HIP1, STYXL1, SRRM3, ZP3, CCDC146, SPDYE5

girirajan_13b_ASD_discovery_cases-20008109910

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 76405706
CNV End: 76517882
CNV Size: 112177
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FDPSP2, SSC4D, DTX2, UPK3B, ZP3

girirajan_13b_ASD_discovery_cases-21907108174

Clinical Profile:

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

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 76431129
CNV End: 76917705
CNV Size: 486577
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: FDPSP2, SPDYE16, DTX2, UPK3B, POMZP3, ZP3

griswold_12_ASD_discovery_cases-case37426

Clinical Profile:

NA

Cognitive Profile:

NA

Griswold AJ , et al. (2012)
Primary Diagnosis: ASD/autism

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Multiplex
CNV Start: 73303650
CNV End: 74726248
CNV Size: 1422599
Validation Description: qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

iourov_12_ASD/ID/EP_discovery_cases-case47

Clinical Profile:

Speech delay, congenital heart defect, congenital lung malformation, syndactyly, esophageal atresia, cleft palate

Cognitive Profile:

Developmental delay

Iourov IY , et al. (2013)
Primary Diagnosis: Developmental delay

Age: 1 yr.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 76513014
CNV End: 76694541
CNV Size: 181528
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SPDYE16, UPK3B, POMZP3

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000001

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000671

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000822

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: 75065669
CNV End: 75704220
CNV Size: 638552
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: PHBP6, PMS2P10, SPDYE14P, SPDYE15P, RCC1L, NCF1C, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, GTF2IRD2B, GTF2IP1, STAG3L1, HIP1, SPDYE5

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000825

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: 74177663
CNV End: 74718954
CNV Size: 541292
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: MIR590, RNA5SP233, LAT2, RFC2, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000826

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000918

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000967

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: 72930548
CNV End: 74869255
CNV Size: 1938708
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: NSUN5P2, TRIM74, SPDYE9P, PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, POM121, STAG3L3, SPDYE8P, SPDYE11, SPDYE10P, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, PMS2P7, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000969

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: 73352304
CNV End: 74869255
CNV Size: 1516952
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001086

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: 73352304
CNV End: 74924037
CNV Size: 1571734
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001179

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001195

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001213

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001698

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: 73312575
CNV End: 74723034
CNV Size: 1410460
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: RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001701

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: 73286412
CNV End: 74723034
CNV Size: 1436623
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001847

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: 73286412
CNV End: 74723034
CNV Size: 1436623
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001855

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: 73267353
CNV End: 74723034
CNV Size: 1455682
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001896

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: 74163876
CNV End: 74593260
CNV Size: 429385
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: MIR590, RNA5SP233, LAT2, RFC2, EIF4H, CLIP2, GTF2IRD1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001940

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: 74379999
CNV End: 74533556
CNV Size: 153558
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: RNA5SP233, CLIP2, GTF2IRD1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002004

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: 73286412
CNV End: 74725240
CNV Size: 1438829
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002060

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: 73286412
CNV End: 74725240
CNV Size: 1438829
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002096

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: 73286412
CNV End: 74707848
CNV Size: 1421437
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002103

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: 74394863
CNV End: 74725240
CNV Size: 330378
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNA5SP233, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002214

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: 73286412
CNV End: 74725240
CNV Size: 1438829
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002295

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: 75526437
CNV End: 76499472
CNV Size: 973036
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: CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, HIP1, STYXL1, SRRM3, ZP3

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002320

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: 73265353
CNV End: 74725240
CNV Size: 1459888
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002342

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: 74035454
CNV End: 74133404
CNV Size: 97951
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: ELN-AS1, LIMK1, ELN

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002373

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: 73269200
CNV End: 74839100
CNV Size: 1569901
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002482

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: 74176025
CNV End: 75361855
CNV Size: 1185831
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: MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, PHBP6, PMS2P10, SPDYE14P, SPDYE15P, LAT2, RFC2, NCF1, SPDYE12P, RCC1L, NCF1C, SPDYE13P, PMS2P2, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2, CASTOR2, GTF2IRD2B, GTF2IP1, STAG3L1

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002685

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: 72768821
CNV End: 74869255
CNV Size: 2100435
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: RN7SL377P, SBDSP1, RN7SL625P, SPDYE7P, NSUN5P2, TRIM74, SPDYE9P, PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, POM121, STAG3L3, SPDYE8P, SPDYE11, SPDYE10P, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, TYW1B, PMS2P7, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003777

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: 73352304
CNV End: 74133404
CNV Size: 781101
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, ELN

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003825

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003837

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: 75567961
CNV End: 76584901
CNV Size: 1016941
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, HIP1, STYXL1, SRRM3, ZP3

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003853

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: 73614671
CNV End: 73942928
CNV Size: 328258
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: VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, MLXIPL, BUD23, STX1A, CLDN4

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004022

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

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: 73092845
CNV End: 74727989
CNV Size: 1635145
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: PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, SPDYE10P, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004107

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004156

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: 73352104
CNV End: 74719154
CNV Size: 1367051
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004184

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: 73265353
CNV End: 74725240
CNV Size: 1459888
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004193

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: 73286412
CNV End: 74725240
CNV Size: 1438829
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: POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004234

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: 73092845
CNV End: 74727989
CNV Size: 1635145
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: PMS2P6, PHBP5, NCF1B, POM121B, NSUN5, RNU6-1080P, FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, SPDYE10P, GTF2IP4, TRIM50, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, GTF2IRD2P1, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004307

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004322

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004336

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: 74869205
CNV End: 76722261
CNV Size: 1853057
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: STAG3L2, PMS2P5, PHBP6, PMS2P10, SPDYE14P, SPDYE15P, CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, FDPSP2, SPDYE16, SPDYE12P, RCC1L, NCF1C, SPDYE13P, PMS2P2, TRIM73, NSUN5P1, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, DTX2, UPK3B, POMZP3, CASTOR2, GTF2IRD2B, GTF2IP1, STAG3L1, HIP1, STYXL1, SRRM3, ZP3, SPDYE5

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004373

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004412

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: 75432651
CNV End: 76418304
CNV Size: 985654
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: CCL24, MIR4651, RPL7L1P3, SNORA14A, RNU6-863P, HSPB1, PPIAP81, POM121C, PMS2P3, CCL26, RHBDD2, POR, TMEM120A, MDH2, GTF2IP7, YWHAG, SSC4D, HIP1, STYXL1, SRRM3, ZP3, SPDYE5

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004435

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004514

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004551

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: 73352304
CNV End: 74924037
CNV Size: 1571734
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004600

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004640

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: 73352304
CNV End: 74924037
CNV Size: 1571734
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, PHBP15, STAG3L2, PMS2P5, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, NCF1, SPDYE12P, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I, GTF2IRD2

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004682

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: 73352104
CNV End: 74719154
CNV Size: 1367051
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004686

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004748

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004794

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004801

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: 73352304
CNV End: 74719013
CNV Size: 1366710
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: FZD9, RNU6-1198P, TBL2, VPS37D, DNAJC30, MIR4284, RN7SL265P, ABHD11-AS1, ABHD11, CLDN3, METTL27, TMEM270, ELN-AS1, MIR590, RNA5SP233, FKBP6, BAZ1B, BCL7B, MLXIPL, BUD23, STX1A, CLDN4, LIMK1, LAT2, RFC2, ELN, EIF4H, CLIP2, GTF2IRD1, GTF2I

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004841

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: 73352304
CNV End: 74719013
CNV Size: 1366710
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genom