Copy Number Variants / 16p13.11

16p13.11

Case population data
Control population data
Type
Deletion-Duplication
Average Length
917307
Range
14972499-16522499
Associated Human Genes
-
Associated Mouse Models
-
Autism Reports
59
Populations
72 (66 case / 6 control)
Individuals
652 (504 case / 148 control)
Summary

Summary statement in development

Reports related to 16p13.11 (59 Reports)
# Type Title Author, Year
1 Major Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Ullmann R , et al. (2007)
2 Major Functional impact of global rare copy number variation in autism spectrum disorders. Pinto D , et al. (2010)
3 Major Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Rosenfeld JA , et al. (2010)
4 Minor Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. Wang LS , et al. (2010)
5 Minor Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. Shen Y , et al. (2011)
6 Major 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. Ramalingam A , et al. (2011)
7 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)
8 Minor Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Levy D , et al. (2011)
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 Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Leblond CS , et al. (2012)
11 Minor Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders. Bartnik M , et al. (2012)
12 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
13 Major Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. Winiowiecka-Kowalnik B , et al. (2012)
14 Major Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Girirajan S , et al. (2013)
15 Minor Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
16 Minor Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Lionel AC , et al. (2013)
17 Minor Global increases in both common and rare copy number load associated with autism. Girirajan S , et al. (2013)
18 Major Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. Tropeano M , et al. (2013)
19 Major Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... Battaglia A , et al. (2013)
20 Minor The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Curry CJ , et al. (2013)
21 Major Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. Mulle JG , et al. (2013)
22 Minor Transmission disequilibrium of small CNVs in simplex autism. Krumm N , et al. (2013)
23 Minor Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. Poultney CS , et al. (2013)
24 Major Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. Sajan SA , et al. (2013)
25 Major Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Pinto D , et al. (2014)
26 MiMinorr Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Chaudhry A , et al. (2014)
27 Minor Refining analyses of copy number variation identifies specific genes associated with developmental delay. Coe BP , et al. (2014)
28 Minor Large-scale discovery of novel genetic causes of developmental disorders. Deciphering Developmental Disorders Study (2014)
29 Minor Performance of case-control rare copy number variation annotation in classification of autism. Engchuan W , et al. (2015)
30 Major Excess of rare, inherited truncating mutations in autism. Krumm N , et al. (2015)
31 Minor Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. Addis L , et al. (2015)
32 Minor Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis... Shin S , et al. (2015)
33 Minor Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications. Oikonomakis V , et al. (2016)
34 Minor Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Yin CL , et al. (2016)
35 Minor Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. Tropeano M , et al. (2016)
36 Major Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Fry AE , et al. (2016)
37 Minor Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou... Xu Q , et al. (2016)
38 Minor Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. Siu WK , et al. (2016)
39 Minor Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. Leppa VM , et al. (2016)
40 Major Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Wolfe K , et al. (2016)
41 Major Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017)
42 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)
43 Minor Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10. Mak ASL , et al. (2017)
44 Minor Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. Hnoonual A , et al. (2017)
45 Major Paternally inherited cis-regulatory structural variants are associated with autism. Brandler WM , et al. (2018)
46 Minor Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. Kushima I , et al. (2018)
47 Minor Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder Fan Y et al. (2018)
48 Major Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder. Munnich A , et al. (2019)
49 Minor Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes Feliciano P et al. (2019)
50 Major Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Breuss MW , et al. (2019)
51 Major Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. Husson T , et al. (2020)
52 Minor Comorbidities associated with genetic abnormalities in children with intellectual disability Chen JS et al. (2021)
53 Minor Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder Mahjani B et al. (2021)
54 Minor Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center Du X et al. (2021)
55 Minor Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean Verberne EA et al. (2022)
56 Major Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder Kushima I et al. (2022)
57 Major - Miyake N et al. (2023)
58 Major - Zhang Y et al. (2023)
59 Minor - Tuncay IO et al. (2023)
Show all Case Details Show all Cohort Details

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: 100
Unknown: -
CNV Size: 790000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

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

16p13.11

Description:

Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011

Diagnosis:

34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)

Battaglia A , et al. (2013)
Cohort Size: 349

Age Min: 42
Age Max: 103
Average: 72.5

Male: 50
Female: 50
Unknown: -
CNV Size: 1300000

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

aCGH, array SNP

Validation Method:

FISH, qPCR

Platform: BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Italy

16p13.11

Description:

Cases (children referred to Guy's and St. Thomas NHS Foundation Trust, southeastern UK from pediatricians and regional hospital) from Brain and Body Genetics Research Exchange (BBGRE)

Diagnosis:

Developmental delay, ASD, speech or language delay or congenital defects

Addis L , et al. (2015)
Cohort Size: 4092

Age Min: 144
Age Max: 144
Average: 144

Male: -
Female: 100
Unknown: -
CNV Size: 1256986

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent 60K
Software: -
Algorithm: -
Geographical Ancestry: United Kingdom

16p13.11

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: -
Female: 100
Unknown: -
CNV Size: 913100

Deletion: 1
Duplication: 0

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

16p13.11

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: 913100

Deletion: 1
Duplication: 0

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

16p13.11

Description:

Individuals with PTCHD1 deletions (Xp22.11 locus) not previously published

Diagnosis:

Most common diagnoses: ASD or autistic features, developmental delay (DD), and intellectual disability (ID)

Chaudhry A , et al. (2014)
Cohort Size: 11

Age Min: 120
Age Max: 120
Average: 120

Male: 100
Female: -
Unknown: -
CNV Size: 1100000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan HD
Software: -
Algorithm: -
Geographical Ancestry: Predominantly Caucasian

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1157300

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

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

16p13.11

Description:

Individuals from 21 families containing 17p13.3 duplications with primary clinical diagnosis (out of 34 individuals), ascertained personally or by query of Signature Genomics, GeneDX, and DECIPHER databases

Diagnosis:

Common diagnoses/phenotypic feaures included developmental delay/intellectual disability, ASD, MCA, and dysmorphic features

Curry CJ , et al. (2013)
Cohort Size: 30

Age Min: 4
Age Max: 4
Average: 4

Male: 100
Female: -
Unknown: -
CNV Size: 1240000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

Platform: Agilent SignatureChip OS (105K or 135K), 244K, 660K-Quad, or 105K; Oxford Gene Technology (OGT) 105K; Genome Dx 105K; Signature Genomics Laboratories BAC; Genzyme Clarisure; UNC SGLSelect 105K
Software: -
Algorithm: -
Geographical Ancestry: 80% Caucasian

16p13.11

Description:

Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").

Diagnosis:

Intellectual disability, developmental delay, and/or ASD

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 790000

Deletion: 36
Duplication: 68

Total CNV: 104
Discovery Method:

aCGH

Validation Method:

None

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

16p13.11

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: 1536280

Deletion: 6
Duplication: 12

Total CNV: 18
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p13.11

Description:

Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.

Diagnosis:

Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.

Du X et al. (2021)
Cohort Size: 511

Age Min: 48
Age Max: 48
Average: 48

Male: -
Female: 100
Unknown: -
CNV Size: 1323126

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina CytoSNP-850Kv1.2 BeadChip
Software: Illumina Genome Studio V2009.2
Algorithm: NA
Geographical Ancestry: United States

16p13.11

Description:

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

Diagnosis:

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

Deciphering Developmental Disorders Study (2014)
Cohort Size: 1133

Age Min: -
Age Max: -
Average: -

Male: 33
Female: 33
Unknown: 33
CNV Size: 1755770

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

aCGH, WES

Validation Method:

None

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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: 240
Age Max: 240
Average: 240

Male: 100
Female: -
Unknown: -
CNV Size: 750000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, solid phase hybridization

Validation Method:

Solid phase hybridization (Illumina)

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

16p13.11

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: 107
Age Max: 107
Average: 107

Male: 100
Female: -
Unknown: -
CNV Size: 845000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

16p13.11

Description:

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

Diagnosis:

All cases diagnosed with ASD

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 11307

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

WES

Validation Method:

None

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

16p13.11

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: 12
Age Max: 168
Average: 106.2

Male: 2
Female: 1
Unknown: 97
CNV Size: 790000

Deletion: 45
Duplication: 98

Total CNV: 143
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, or confirmation by inheritance

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

16p13.11

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: 1650001

Deletion: 4
Duplication: 4

Total CNV: 8
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

16p13.11

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: 57479

Deletion: 1
Duplication: 0

Total CNV: 1
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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: 60
Age Max: 132
Average: 96

Male: -
Female: 100
Unknown: -
CNV Size: 1298369

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

WES

Validation Method:

ddPCR, QMPSF, aCGH

Platform: Illumina HiSeq4000
Software: CANOES
Algorithm: -
Geographical Ancestry: France

16p13.11

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: 1817216

Deletion: 14
Duplication: 26

Total CNV: 40
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

16p13.11

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: 40
Female: 60
Unknown: -
CNV Size: 13107

Deletion: 1
Duplication: 1

Total CNV: 2
Discovery Method:

WES

Validation Method:

None

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

16p13.11

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: 63
Female: 38
Unknown: -
CNV Size: 1459893

Deletion: 3
Duplication: 8

Total CNV: 11
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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 13781

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p13.11

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: 228
Age Max: 552
Average: 386.4

Male: 50
Female: 50
Unknown: -
CNV Size: 822731

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

16p13.11

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: 228
Age Max: 552
Average: 386.4

Male: 50
Female: 50
Unknown: -
CNV Size: 1635275

Deletion: 2
Duplication: 3

Total CNV: 5
Discovery Method:

aCGH

Validation Method:

N/A

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

16p13.11

Description:

Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.

Diagnosis:

Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.

Kushima I et al. (2022)
Cohort Size: 1205

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1167451

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qRT-PCR

Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan

16p13.11

Description:

Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.

Diagnosis:

Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.

Kushima I et al. (2022)
Cohort Size: 1818

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1386113

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

qRT-PCR

Platform: Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan

16p13.11

Description:

Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.

Diagnosis:

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

Kushima I et al. (2022)
Cohort Size: 3014

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1635276

Deletion: 2
Duplication: 4

Total CNV: 6
Discovery Method:

aCGH

Validation Method:

qRT-PCR

Platform: NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Software: BioDiscovery Nexus Copy Number v.9.0
Algorithm: Fast Adaptive States Segmentation Technique 2
Geographical Ancestry: Japan

16p13.11

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: 86
Female: 14
Unknown: -
CNV Size: 995291

Deletion: 2
Duplication: 1

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

-

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

16p13.11

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: 60
Age Max: 60
Average: 60

Male: 100
Female: -
Unknown: -
CNV Size: 577852

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, array SNP

Validation Method:

None

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

16p13.11

Description:

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

Diagnosis:

Diagnosis according to ADOS and ADI-R

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

Age Min: -
Age Max: -
Average: -

Male: 82
Female: 18
Unknown: -
CNV Size: 2800000

Deletion: 4
Duplication: 5

Total CNV: 9
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p13.11

Description:

Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.

Diagnosis:

Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases

Mak ASL , et al. (2017)
Cohort Size: 258

Age Min: 23
Age Max: 204
Average: 113.5

Male: 100
Female: -
Unknown: -
CNV Size: 1160000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen CGX-135K or Agilent-CGX 60K
Software: -
Algorithm: -
Geographical Ancestry: Chinese

16p13.11

Description:

Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.

Diagnosis:

Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.

Mahjani B et al. (2021)
Cohort Size: 996

Age Min: -
Age Max: -
Average: -

Male: 67
Female: 33
Unknown: -
CNV Size: 1387949

Deletion: 1
Duplication: 2

Total CNV: 3
Discovery Method:

WES

Validation Method:

None

Platform: Infinium OmniExpress Exome
Software: NA
Algorithm: PennCNV
Geographical Ancestry: Sweden

16p13.11

Description:

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

Diagnosis:

Diagnosis of schizophrenia based on meeting DSM-IV citeria

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

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 1304875

Deletion: 0
Duplication: 1

Total CNV: 1
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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH, karyotyping

Validation Method:

FISH

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

16p13.11

Description:

Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.

Diagnosis:

Cases were clinically diagnosed with ASD based on DSM-V.

Miyake N et al. (2023)
Cohort Size: 405

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 415489

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Exome sequencing

Validation Method:

qPCR

Platform: Illumina HiSeq 2000/2500
Software: XHMM
Algorithm: NA
Geographical Ancestry: Japan

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 2620459

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

N/A

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

16p13.11

Description:

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

Diagnosis:

Cases assessed for ASD according to DSM-IV behavioral criteria

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

Age Min: 144
Age Max: 144
Average: 144

Male: 100
Female: -
Unknown: -
CNV Size: 447700

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

None

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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 883361

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

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

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

16p13.11

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: 24
Age Max: 110
Average: 76.666666666667

Male: 100
Female: -
Unknown: -
CNV Size: 1406982

Deletion: 2
Duplication: 4

Total CNV: 6
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

16p13.11

Description:

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

Diagnosis:

Cases diagnosed with ASD

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

Age Min: -
Age Max: -
Average: -

Male: 57
Female: 43
Unknown: -
CNV Size: 1435673

Deletion: 4
Duplication: 2

Total CNV: 6
Discovery Method:

WES

Validation Method:

None

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

16p13.11

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: 396587

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

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

16p13.11

Description:

Consecutive pediatric patients evaluated at Children's Mercy Hospitals & Clinics, Kansas City, MO.

Diagnosis:

Patients diagnosed with one or more of the following: developmental delay (DD), autism (ASD), seizure, dysmorphic features, or multiple congenital anomalies

Ramalingam A , et al. (2011)
Cohort Size: 1645

Age Min: -
Age Max: -
Average: -

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

Deletion: 6
Duplication: 3

Total CNV: 9
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: Agilent 244K
Software: Agilent CGH Analytics 3.2.5
Algorithm: ADM-2
Geographical Ancestry: -

16p13.11

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: 837759

Deletion: 2
Duplication: 2

Total CNV: 4
Discovery Method:

Solid phase hybridization

Validation Method:

qPCR

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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 0

Total CNV: 0
Discovery Method:

Solid phase hybridization

Validation Method:

None

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

16p13.11

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: 69
Female: 31
Unknown: -
CNV Size: 1018022

Deletion: 10
Duplication: 13

Total CNV: 23
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&

16p13.11

Description:

Father and son from a three-generation Chinese family with ASD and language delay.

Diagnosis:

Diagnosis of ASD based upon DSM-IV criteria.

Shen Y , et al. (2011)
Cohort Size: 2

Age Min: 144
Age Max: 492
Average: 318

Male: 100
Female: -
Unknown: -
CNV Size: 32678

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 244K
Software: DNA Analytics
Algorithm: -
Geographical Ancestry: Chinese

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: 24
Age Max: 24
Average: 24

Male: 100
Female: -
Unknown: -
CNV Size: 1047000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

Platform: Affymetrix CytoScan 750K
Software: Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
Algorithm: -
Geographical Ancestry: Korean

16p13.11

Description:

41 adult ASD cases (39 males, 2 females, age range of 22-33 years, median age of 27 years) recruited from a cohort of a local study on the adult outcome of children with autism with normal intelligence, and 27 pediatric ASD cases (21 males, 6 females, age range of 2-15 years, median age of 5 years) assessed in the Department of Paediatrics and Adolescent Medicine of Princess Margaret Hospital or T

Diagnosis:

Diagnosis of ASD in cases from the adult cohort was made during childhood (before the year 1990) using Diagnostic and Statistical Manual of Mental Disorders, Third Revised Edition and was confirmed with the developmental, dimensional and diagnostic interview during adulthood; diangosis of ASD in cases from the pediatric cohort was confirmed using ADI-R. IQ of cases in the adult cohort was assessed by Wechsler Adult Intelligence Scale-Third edition (WAIS-III) Chinese version. Developmental delay reported in 13/27 (52.0%) of cases in the pediatric cohort.

Siu WK , et al. (2016)
Cohort Size: 68

Age Min: -
Age Max: -
Average: -

Male: 75
Female: 25
Unknown: -
CNV Size: 1160000

Deletion: 0
Duplication: 4

Total CNV: 4
Discovery Method:

aCGH

Validation Method:

None

Platform: NimbleGen CGX-135K
Software: DEVA, Genoglyphix
Algorithm: -
Geographical Ancestry: Hong Kong

16p13.11

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: 60
Age Max: 60
Average: 60

Male: -
Female: 100
Unknown: -
CNV Size: 1676000

Deletion: 0
Duplication: 1

Total CNV: 1
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

16p13.11

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: 2
Age Max: 576
Average: 122.4347826087

Male: 59
Female: 41
Unknown: -
CNV Size: 1366511

Deletion: 11
Duplication: 16

Total CNV: 27
Discovery Method:

aCGH

Validation Method:

aCGH, MLPA

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

16p13.11

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: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1305048

Deletion: 0
Duplication: 1

Total CNV: 1
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

16p13.11

Description:

ASD probands from East African families with at least one child affected with ASD (30 simplex families, 3 multiplex families).

Diagnosis:

Cases diagnosed with ASD using ADOS, ADI-R, and DSM-V.

Tuncay IO et al. (2023)
Cohort Size: 36

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 34503

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

WGS

Validation Method:

None

Platform: Illumina NovaSeq 6000
Software: CNVkit, GISTIC2.0.
Algorithm: NA
Geographical Ancestry: East Africa (Ethiopia, Eritrea, Kenya)

16p13.11

Description:

Australian autism discovery cohort screened by aCGH

Diagnosis:

Autism, diagnosis based on fulfillment of DSM-IV-TR criteria

Ullmann R , et al. (2007)
Cohort Size: 70

Age Min: 42
Age Max: 228
Average: 135.6

Male: 83
Female: 17
Unknown: -
CNV Size: 1500000

Deletion: 0
Duplication: 2

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: BACs aCGH
Software: CGHPRO
Algorithm: -
Geographical Ancestry: Australian

16p13.11

Description:

Australian autism replication cohort screened by qPCR for 16p13.11 CNVs

Diagnosis:

Autism, diagnosis based on fulfillment of DSM-IV-TR criteria

Ullmann R , et al. (2007)
Cohort Size: 112

Age Min: 42
Age Max: 228
Average: 135.6

Male: 83
Female: 17
Unknown: -
CNV Size: 1500000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

qPCR

Validation Method:

aCGH

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Australian

16p13.11

Description:

Patients with mental retardation in a Danish cohort, which were previously used in a Kirchhoff et al. 2005 CNV study.

Diagnosis:

Mental retardation (MR)

Ullmann R , et al. (2007)
Cohort Size: 95

Age Min: 42
Age Max: 228
Average: 135.6

Male: 83
Female: 17
Unknown: -
CNV Size: 1500000

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH

Validation Method:

qPCR

Platform: BACs aCGH
Software: CGHPRO
Algorithm: -
Geographical Ancestry: Danish

16p13.11

Description:

Patient with mental retardation, born to non-consanguineous parents, that was previously reported in a Rosenberg et al. 2006 aCGH study.

Diagnosis:

Mental retardation (MR)

Ullmann R , et al. (2007)
Cohort Size: 1

Age Min: 42
Age Max: 228
Average: 135.6

Male: 83
Female: 17
Unknown: -
CNV Size: 1500000

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH, aCGH, qPCR

Platform: BACs aCGH
Software: CGHPRO
Algorithm: -
Geographical Ancestry: Brazilian

16p13.11

Description:

ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)

Diagnosis:

ASD (according to DSM-IV criteria)

Wang LS , et al. (2010)
Cohort Size: 103

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1164000

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

Solid phase hybridization

Validation Method:

None

Platform: Illumina HumanHap550 BeadChip
Software: BeadStudio
Algorithm: PennCNV
Geographical Ancestry: Croatian

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

FISH

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

16p13.11

Description:

Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.

Diagnosis:

All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).

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

Age Min: 540
Age Max: 540
Average: 540

Male: -
Female: 100
Unknown: -
CNV Size: 1724212

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

aCGH

Validation Method:

qPCR, FISH, QF-PCR

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

16p13.11

Description:

Patients in the Dutch Caribbean referred to a visiting Dutch clinical geneticist between November 2011 and November 2019 by local pediatricians for a clinical genetic evaluation at the outpatient pediatric clinics of the Curacao Medical Center, Dr. Horacio E. Oduber Hospital (Aruba), Fundashon Mariadal (Bonaire), and St. Maarten Medical Center.

Diagnosis:

Common reasons for referral included developmental delay (DD) and/or intellectual disability (ID) (39%), with or without other anomalies, and congenital anomalies (24%); a subset of individuals also presented with autism spectrum disorder (ASD) and/or seizures.

Verberne EA et al. (2022)
Cohort Size: 331

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 1271854

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

CMA

Validation Method:

None

Platform: NA
Software: NA
Algorithm: NA
Geographical Ancestry: Dutch Caribbean

16p13.11

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: 40237

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

Array SNP

Validation Method:

None

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

16p13.11

Description:

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

Diagnosis:

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

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

Age Min: -
Age Max: -
Average: -

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

Deletion: 2
Duplication: 0

Total CNV: 2
Discovery Method:

aCGH, array SNP

Validation Method:

None

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

16p13.11

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: 1891999

Deletion: 3
Duplication: 12

Total CNV: 15
Discovery Method:

WGS

Validation Method:

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

Platform: Complete Genomics, Illumina HiSeq 2000, HiSeq X
Software: -
Algorithm: -
Geographical Ancestry: N/A

16p13.11

Description:

Patients diagnosed with ASD from the the Department of Psychiatry, Beijing Children's Hospital, from July 2019 to May 2021.

Diagnosis:

Cases diagnosed with autism spectrum disorder (ASD) according to DSM-V criteria; the two most common features of ASD cases in this cohort were intellectual disability and language delay.

Zhang Y et al. (2023)
Cohort Size: 354

Age Min: 24
Age Max: 24
Average: 24

Male: 100
Female: -
Unknown: -
CNV Size: 1590616

Deletion: 0
Duplication: 1

Total CNV: 1
Discovery Method:

WGS

Validation Method:

qPCR

Platform: Illumina Novaseq
Software: CNVnator (v.1.2.2), BIC-Seq (v.0.7.2)
Algorithm: NA
Geographical Ancestry: China
Show all Case Details Show all Cohort Details

addis_15_ASD/DD/ID_discovery_cases-BBGRE112031

Clinical Profile:

Developmental delay, hypotonia

Cognitive Profile:

-

Addis L , et al. (2015)
Primary Diagnosis: Developmental delay

Age: 12 yrs.

Gender: F
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 14954893
CNV End: 16211879
CNV Size: 1256987
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11

bartnik_12_EP_discovery_cases-case21

Clinical Profile:

Age of onset of epilepsy: 9 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME). Parental phenotype: mother normal; father and brother have epilepsy.

Cognitive Profile:

Normal IQ

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

Age: NA

Gender: F
Primary Disorder Inheritence: Paternal

Family Profile: Multiplex
CNV Start: 15823243
CNV End: 16198337
CNV Size: 375095
Validation Description: -
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: RNU6-213P, RPL15P20, RPL17P40, FOPNL, ABCC6, ABCC1, MYH11

bartnik_12_EP_discovery_cases-case22

Clinical Profile:

Age of onset of epilepsy: 16 years. Seizure types/epilepsy syndrome: juvenile myoclonic epilepsy (JME). Parental phenotype: unknown.

Cognitive Profile:

Normal IQ

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

Age: NA

Gender: F
Primary Disorder Inheritence: -

Family Profile: -
CNV Start: 15424607
CNV End: 16214290
CNV Size: 789684
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

battaglia_13_DD/ID/ASD_discovery_cases-case35

Clinical Profile:

Autism: yes (autism). Epilepsy: no. Dysmorphic features: yes. Carries premutation allele at the FRAXA locus (61-62 triplets).

Cognitive Profile:

Borderline DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Autism and borderline DD/ID

Age: 3 yrs. 6 mos.

Gender: F
Primary Disorder Inheritence: Paternal

Family Profile: Possible multi-generational
CNV Start: 14954894
CNV End: 16155750
CNV Size: 1200857
Validation Description: FISH or qPCR
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11

battaglia_13_DD/ID/ASD_discovery_cases-case43

Clinical Profile:

Autism: no. Epilepsy: no. Dysmorphic features: yes.

Cognitive Profile:

Moderate DD/ID

Battaglia A , et al. (2013)
Primary Diagnosis: Developmental delay/intellectual disability

Age: 8 yrs. 7 mos.

Gender: M
Primary Disorder Inheritence: Paternal

Family Profile: Possible multi-generational
CNV Start: 14850703
CNV End: 16155750
CNV Size: 1305048
Validation Description: FISH or qPCR
Primary Disorder Inheritence: Paternal
CNV Inheritance: Paternal
Family Profile: Possible multi-generational
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11

chaudhry_14_ASD/DD/ID_discovery_cases-caseL1

Clinical Profile:

Psychiatric/behavioral disorders: ASD, mood swings, aggressive behaviors, impulsivity. Neurological features: hypotonic face, intention tremor. Dysmorphic features: prominent ears with simple and superior helices, deep set eyes, prominent upper central incisors, pointed chin, bilateral 5th finger clinodactyly. Growth abnormalities: relative microcephaly (head circumference 10th %ile).

Cognitive Profile:

Developmental/cognitive functioning: global developmental delay; mild intellectual disability (IQ 60-70).

Chaudhry A , et al. (2014)
Primary Diagnosis: ASD, developmental delay, and ID

Age: 10 yrs.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15323173
CNV End: 16435944
CNV Size: 1112772
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11

coe_14_ASD/DD/ID_discovery_cases-case100

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case101

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case102

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case103

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case104

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case105

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case106

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case107

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case108

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case109

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case110

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case111

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case112

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case113

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case114

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case115

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case116

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case117

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case118

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case119

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case120

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case121

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case122

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case123

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case124

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case125

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case126

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case127

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case128

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case129

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case130

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case131

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case132

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case133

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case134

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case135

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case136

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case137

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case138

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case139

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case140

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case141

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case142

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case143

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case144

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case145

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case146

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case147

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case148

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case149

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case150

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case151

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case152

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case153

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case154

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case155

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case156

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case157

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case158

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case159

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case160

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case161

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case162

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case163

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case164

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case165

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case166

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case167

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case168

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case169

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case170

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case171

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case172

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case173

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case174

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case175

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case176

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case177

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case178

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case179

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case180

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case181

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case182

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case183

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case184

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case185

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case186

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case187

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case188

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case189

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case190

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case191

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case192

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case193

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case194

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case195

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case196

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case197

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case198

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case199

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case200

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case201

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case98

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

coe_14_ASD/DD/ID_discovery_cases-case99

Clinical Profile:

N/A

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

curry_13_DD/ID/ASD_discovery_cases-patient17a1

Clinical Profile:

Presentation: failure-to-thrive, hiatal hernia. Developmental and neurological features: hypotonia. Brain imaging abnormalities: thin corpus callosum consistent with mild partial agenesis, ventriculomegaly, probable or mild cerebellar vermis hypoplasia, cerebellar tonsilar ectopia with Chiari 1 malformation, subtle basi-occipital changes. Rare phenotypes and other health problems: Marfanoid habitus, hiatal hernia, umbilical hernia, Morgagni hernia, ventricular septal defect, hemivertebrae, gastroesophageal reflux, GT, recurrent bilateral otitis media. Growth parameters: birth weight >90th %ile; weight 50th %ile, height 14th %ile, OFC 25th %ile. Ethnicity: Caucasian.

Cognitive Profile:

Mild ID

Curry CJ , et al. (2013)
Primary Diagnosis: ID

Age: 4 mos.

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 14955942
CNV End: 16194046
CNV Size: 1238105
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11

engchuan_15_ASD_discovery_cases-case14142_2400

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: 14829807
CNV End: 15154226
CNV Size: 324420
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA1, PDXDC1, RRN3

engchuan_15_ASD_discovery_cases-case14142_2400

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: 15386022
CNV End: 16254748
CNV Size: 868727
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11

engchuan_15_ASD_discovery_cases-case14224_3580

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: 15351371
CNV End: 15525217
CNV Size: 173847
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NPIPA5, MPV17L, C16orf45

engchuan_15_ASD_discovery_cases-case14283_4060

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: 14769675
CNV End: 16305955
CNV Size: 1536281
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11

engchuan_15_ASD_discovery_cases-case14380_4930

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: 16504220
CNV End: 16744832
CNV Size: 240613
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case14412_5210

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: 14958889
CNV End: 16305955
CNV Size: 1347067
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, MYH11

engchuan_15_ASD_discovery_cases-case20070_1331001

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: 14807513
CNV End: 15933867
CNV Size: 1126355
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, MYH11

engchuan_15_ASD_discovery_cases-case20070_1331001

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: 16126269
CNV End: 16161383
CNV Size: 35115
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, ABCC1

engchuan_15_ASD_discovery_cases-case20070_1331001

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: 16168715
CNV End: 16209531
CNV Size: 40817
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case20070_1331001

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: 16000744
CNV End: 16068182
CNV Size: 67439
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case21015_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: 16526470
CNV End: 16707209
CNV Size: 180740
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case3310_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: 14769675
CNV End: 15368440
CNV Size: 598766
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, NPIPA1, PDXDC1, RRN3

engchuan_15_ASD_discovery_cases-case3441_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: 14807513
CNV End: 16214494
CNV Size: 1406982
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, MYH11

engchuan_15_ASD_discovery_cases-case3613_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: 15022299
CNV End: 15079148
CNV Size: 56850
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3

engchuan_15_ASD_discovery_cases-case4182_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: 15386022
CNV End: 16198126
CNV Size: 812105
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

engchuan_15_ASD_discovery_cases-case5074_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: 16490462
CNV End: 16707209
CNV Size: 216748
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -

engchuan_15_ASD_discovery_cases-case5258_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: 15386022
CNV End: 16269382
CNV Size: 883361
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11

engchuan_15_ASD_discovery_cases-case5298_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: 16223780
CNV End: 16725420
CNV Size: 501641
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, PKD1P1, NOMO3, NPIPA7

fitzgerald_14_ASD/DD/ID_discovery_cases-case000009

Clinical Profile:

Clinical profile N/A; CNV from Supplementary Table S13

Cognitive Profile:

N/A

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

Age: N/A

Gender: N/A
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15017383
CNV End: 15094128
CNV Size: 76746
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: NTAN1, PDXDC1, RRN3

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260060

Clinical Profile:

Polydactyly (feet); Cerebellar hypoplasia; Feeding difficulties in infancy; Abnormality of the nervous system; Enlarged cisterna magna; Global developmental delay; Dandy-Walker malformation; Neonatal alloimmune thrombocytopenia; Abnormality of the penis; Abnormality of the tongue; Upslanted palpebral fissure; Epicanthus; Abnormality of the lip; Abnormality of the ear; Abnormality of the umbilicus; Abnormality of eye movement

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 15400847
CNV End: 16294603
CNV Size: 893757
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11

fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260710

Clinical Profile:

Intrauterine growth retardation; Short stature; Clubbing; Feeding difficulties in infancy; IgA deficiency; Microcephaly

Cognitive Profile:

-

Deciphering Developmental Disorders Study (2014)
Primary Diagnosis: Microcephaly and dysmorphic features

Age: N/A

Gender: F
Primary Disorder Inheritence: -

Family Profile: Simplex
CNV Start: 14711524
CNV End: 16467294
CNV Size: 1755771
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: ABCC6P2, MIR3179-1, MIR3670-1, MIR3180-1, MIR6511A1, MIR6770-1, MIR1972-1, MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MIR3179-2, MIR3670-2, MIR3180-2, MIR6511A2, MIR6770-2, MIR6511A3, NPIPA3, NPIPA2, NOMO1, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, PKD1P1, NPIPA1, PDXDC1, RRN3, C16orf45, MARF1, ABCC1, NOMO3, NPIPA7, MYH11

fry_16_DD/ID/EP/ASD_discovery_cases-caseR913

Clinical Profile:

Clinical features: moderate-to-severe intellectual disability, ASD, challenging behavior (history of aggressive episodes). Age of seizure onset: 10 months. Epilepsy syndrome: focal epilepsy. Seizure types: febrile seizures, focal dyscognitive seizures, evolution to bilateral or convulsive seizures. Family history: family history of childhood epilepsy in the case's mother and a maternal uncle (untested).

Cognitive Profile:

Moderate-to-severe intellectual disability

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

Age: 20 yrs.

Gender: M
Primary Disorder Inheritence: Possibly maternal

Family Profile: -
CNV Start: 15418717
CNV End: 16168714
CNV Size: 749998
Validation Description: Solid phase hybridization (Illumina)
Primary Disorder Inheritence: Possibly maternal
CNV Inheritance: Maternal
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0852

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0853

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0854

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0855

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0856

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0857

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0858

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0859

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0860

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0861

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0862

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0863

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0864

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0865

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0866

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0867

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0868

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0869

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0870

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0871

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0872

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0873

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0874

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0875

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0876

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0877

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0878

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0879

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0880

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0881

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0882

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0883

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0884

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0885

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0886

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0887

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0888

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0889

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0890

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0891

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0892

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0893

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0894

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0895

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0896

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0897

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0898

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0899

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0900

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0901

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0902

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0903

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0904

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0905

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0906

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0907

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0908

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0909

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0910

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0911

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0912

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0913

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0914

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0915

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0916

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0917

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0918

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0919

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0920

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0921

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0922

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0923

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0924

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0925

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0926

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0927

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0928

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0929

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0930

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0931

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0932

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0933

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0934

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0935

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0936

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0937

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0938

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0939

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0940

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0941

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0942

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0943

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0944

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0945

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0946

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0947

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0948

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0949

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0950

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0951

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0952

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0953

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0954

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0955

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0956

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0957

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0958

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0959

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0960

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0961

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0962

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0963

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0964

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0965

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0966

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0967

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0968

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0969

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0970

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0971

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0972

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0973

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0974

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0975

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0976

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0977

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0978

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0979

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0980

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, MYH11

girirajan_12_ASD/DD/ID_discovery_cases-case0981

Clinical Profile:

NA

Cognitive Profile:

NA

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

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 15408642
CNV End: 16198642
CNV Size: 790001
Validation Description: NA