16p13.11
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
923459Range
14972499-16522499Associated Human Genes
-Associated Mouse Models
-Autism Reports
61Populations
74 (68 case / 6 control)Individuals
654 (506 case / 148 control)Summary
Summary statement in development
External Links
Reports related to 16p13.11 (61 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) |
| 60 | Minor | Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings | Axel Schmidt et al. (2024) |
| 61 | Minor | Genetic Diagnostic Yield in Autism Spectrum Disorder (ASD) and Epilepsy Phenotypes in Children with Genetically Defined ASD | Karen Lob et al. () |
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:
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:
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 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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
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:
Patients with ASD whose electronic medical records (EMRs) were queried from April 1, 2015 through March 31, 2020 and who had at least one genetic testing result documented in their chart; study completed at the Children's Neurodevelopmental Center, Hasbro Children's Hospital, Providence, RI.
Diagnosis:
Cases diagnosed with ASD (ICD-10 code F.84), with the majority of diagnoses made using the ADOS-2 followed by CARS.
Karen Lob et al. ()Cohort Size: 523
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1067102
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
-
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: United States
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:
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 who had undergone exome sequencing and were partially analyzed with next-generation phenotyping approaches enrolled in the TRANSLATE NAMSE prospective study at ten German university hospitals.
Diagnosis:
The majority of children were assigned to the disease category neurodevelopmental disorders (n=702, 54%); patient phenotypes were also annotated with terms of the Human Phenotype Ontology (HPO) by the respective CRD physicians.
Axel Schmidt et al. (2024)Cohort Size: 1577
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1470001
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, Exome sequencing
Validation Method:
-
Platform: Illumina HiSeq 2500 or NovaSeq 6000
Software: ExomeDepth v1.1.10, ClinCNV v1.16.1
Algorithm: -
Geographical Ancestry: Germany
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
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
brandler_18_ASD_discovery_cases-caseMT_14.3
Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15362394
CNV End: 16275493
CNV Size: 913100
Validation Description: PCR or SNP data validation (SNP VCF)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, C16orf45, MARF1, ABCC1, NOMO3, MYH11
breuss_19_ASD_discovery_cases-caseF18_II-1
Clinical Profile:
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).
Cognitive Profile:
-
Breuss MW , et al. (2019)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15362394
CNV End: 16275493
CNV Size: 913100
Validation Description: PCR, ddPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, ABCC6, BMERB1, MARF1, ABCC1, NOMO3, 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
chen_21_ASD/DD/ID_discovery_cases-case38
Clinical Profile:
Developmental delay/intellectual disability
Cognitive Profile:
Developmental delay/intellectual disability
Chen JS et al. (2021)Primary Diagnosis: Developmental delay/intellectual disability
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 15037718
CNV End: 16195017
CNV Size: 1157300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MIR6511B2, MIR3180-4, MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NTAN1, NPIPP1, PKD1P6-NPIPP1, PKD1P6, NPIPA5, MPV17L, CEP20, ABCC6, PDXDC1, RRN3, BMERB1, MARF1, ABCC1, NDE1, MYH11
coe_14_ASD/DD/ID_discovery_cases-case100
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
du_21_ASD/DD/ID_discovery_cases-case31
Clinical Profile:
Speech delay, low carnitine levels, language disorder
Cognitive Profile:
-
Du X et al. (2021)Primary Diagnosis: Developmental delay
Age: 4 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 14875001
CNV End: 16198126
CNV Size: 1323126
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: ABCC6, RRN3, NDE1, BMERB1, CEP20, NTAN1, MPV17L, PKD1P3, PKD1P6, MIR484, RPL15P20, MYH11, ABCC1, NPIPA5, RPL17P40, MIR1972-1, MIR3179-1, MIR3180-4, MIR3670-1, MIR3180-1, NPIPP1, MIR6511B2, MIR6506, MIR6770-1, MIR6511A1, RNU6-213P, MARF1, NPIPA1, PDXDC1, NOMO1
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
fan_19_ASD_discovery_cases-caseASD443
Primary Diagnosis: ASD
Age: 8 yrs. 11 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 15355840
CNV End: 16200848
CNV Size: 845009
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR6506, MIR484, RNU6-213P, RPL15P20, RPL17P40, NPIPA5, MPV17L, NDE1, FOPNL, ABCC6, MARF1, ABCC1, MYH11
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
feliciano_19_ASD_discovery_cases-caseSP0032712
Clinical Profile:
Family history: both parents negative for ASD; no mental health diagnoses reported for the mother (father unknown).
Cognitive Profile:
-
Feliciano P et al. (2019)