17q12
Case population data
Control population data
Type
Deletion-DuplicationAverage Length
949559Range
37228545-39077997Associated Human Genes
CACNB1, GGNBP2, PPP1R1B, SLFN5Associated Mouse Models
-Autism Reports
63Populations
78 (72 case / 6 control)Individuals
485 (389 case / 96 control)Summary
Deletions and duplications at the 17q12 locus have been observed not only in individuals with ASD, but also in individuals with schizophrenia. CNVs at the 17q12 locus may also be responsible for RCAD (renal cysts and diabetes).
External Links
Reports related to 17q12 (63 Reports)
| # | Type | Title | Author, Year |
|---|---|---|---|
| 1 | Major | Structural variation of chromosomes in autism spectrum disorder. | Marshall CR , et al. (2008) |
| 2 | Minor | Identifying autism loci and genes by tracing recent shared ancestry. | Morrow EM , et al. (2008) |
| 3 | Minor | Clinical genetic testing for patients with autism spectrum disorders. | Shen Y , et al. (2010) |
| 4 | Major | Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D , et al. (2010) |
| 5 | Major | Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. | Loirat C , et al. (2010) |
| 6 | Major | Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. | Rosenfeld JA , et al. (2010) |
| 7 | Minor | Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. | Wang LS , et al. (2010) |
| 8 | Major | Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. | Moreno-De-Luca D , et al. (2010) |
| 9 | Major | Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. | Bremer A , et al. (2011) |
| 10 | Minor | Rare structural variation of synapse and neurotransmission genes in autism. | Gai X , et al. (2011) |
| 11 | 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) |
| 12 | Minor | Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D , et al. (2011) |
| 13 | 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) |
| 14 | Major | Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | Celestino-Soper PB , et al. (2011) |
| 15 | Minor | Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S , et al. (2011) |
| 16 | Minor | Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK , et al. (2012) |
| 17 | Major | Complex autism spectrum disorder in a patient with a 17q12 microduplication. | Brandt T , et al. (2012) |
| 18 | Minor | Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum. | George AM , et al. (2012) |
| 19 | Minor | The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization. | Tzetis M , et al. (2012) |
| 20 | Major | Phenotypic heterogeneity of genomic disorders and rare copy-number variants. | Girirajan S , et al. (2012) |
| 21 | Minor | Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. | Iourov IY , et al. (2013) |
| 22 | Minor | A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A , et al. (2013) |
| 23 | Minor | Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. | Beunders G , et al. (2013) |
| 24 | Major | Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. | Girirajan S , et al. (2013) |
| 25 | Major | Global increases in both common and rare copy number load associated with autism. | Girirajan S , et al. (2013) |
| 26 | Minor | Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. | Nava C , et al. (2013) |
| 27 | Major | Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ... | Battaglia A , et al. (2013) |
| 28 | Minor | Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. | Soorya L , et al. (2013) |
| 29 | Major | Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. | Mulle JG , et al. (2013) |
| 30 | Major | Transmission disequilibrium of small CNVs in simplex autism. | Krumm N , et al. (2013) |
| 31 | Minor | Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS , et al. (2013) |
| 32 | 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) |
| 33 | Major | Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. | Palumbo P , et al. (2014) |
| 34 | Major | Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D , et al. (2014) |
| 35 | MiMinorr | 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM , et al. (2014) |
| 36 | Major | Clinical report of a 17q12 microdeletion with additionally unreported clinical features. | Roberts JL , et al. (2014) |
| 37 | Minor | Refining analyses of copy number variation identifies specific genes associated with developmental delay. | Coe BP , et al. (2014) |
| 38 | Major | Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W , et al. (2015) |
| 39 | Major | Excess of rare, inherited truncating mutations in autism. | Krumm N , et al. (2015) |
| 40 | Minor | The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C , et al. (2015) |
| 41 | Minor | Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. | Tammimies K , et al. (2015) |
| 42 | Minor | RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Soueid J , et al. (2016) |
| 43 | Minor | The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. | Wenger TL , et al. (2016) |
| 44 | Minor | Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL , et al. (2016) |
| 45 | Minor | 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. | Rasmussen M , et al. (2016) |
| 46 | Minor | Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM , et al. (2016) |
| 47 | Major | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder | C Yuen RK et al. (2017) |
| 48 | Minor | Copy number variation analysis of patients with intellectual disability from North-West Spain. | Quintela I , et al. (2017) |
| 49 | Minor | Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability. | Sansovi I , et al. (2017) |
| 50 | Minor | Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder. | Li SJ , et al. (2018) |
| 51 | Major | Paternally inherited cis-regulatory structural variants are associated with autism. | Brandler WM , et al. (2018) |
| 52 | Major | NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. | Al Shehhi M , et al. (2018) |
| 53 | Minor | De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism. | Fan Y , et al. (2018) |
| 54 | Minor | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) |
| 55 | Major | Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. | Guo H , et al. (2018) |
| 56 | Minor | Both rare and common genetic variants contribute to autism in the Faroe Islands. | Leblond CS , et al. (2019) |
| 57 | Minor | Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes | Feliciano P et al. (2019) |
| 58 | Minor | The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing | Wang J et al. (2020) |
| 59 | Minor | Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder | Mahjani B et al. (2021) |
| 60 | Minor | Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean | Verberne EA et al. (2022) |
| 61 | Minor | Diagnostic yield of patients with undiagnosed intellectual disability | Leite AJDC et al. (2022) |
| 62 | Major | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder | Kushima I et al. (2022) |
| 63 | Minor | Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder | Chan AJS et al. (2022) |
17q12
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: 30
Age Max: 30
Average: 30
Male: 100
Female: -
Unknown: -
CNV Size: 1300000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
FISH, qPCR
Platform: BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Italy
17q12
Description:
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
Diagnosis:
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Al Shehhi M , et al. (2018)Cohort Size: 34
Age Min: 115
Age Max: 115
Average: 115
Male: 100
Female: -
Unknown: -
CNV Size: 1392864
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Platform: Platform N/A
Software: -
Algorithm: -
Geographical Ancestry: Ireland
17q12
Description:
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
Diagnosis:
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
Bremer A , et al. (2011)Cohort Size: 223
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 110000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
MLPA, FISH
Platform: BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
Software: -
Algorithm: -
Geographical Ancestry: Swedish
17q12
Description:
Only child of non-consanguinenous parents of Ashkenazi Jewish origin with no family history of intellectual disability, autism/ASD, or other psychiatric illness
Diagnosis:
Diagnosis of autism; diagnosis based on evaluation using ADOS-G Module 1, ADI-R, and psychiatric evaluation by psychiatrist with ASD clinical expertise. Cognitive assessment made using Mullen Scales of Early Learning, adaptive functioning evaluation made with VABS-II.
Brandt T , et al. (2012)Cohort Size: 1
Age Min: 60
Age Max: 60
Average: 60
Male: 100
Female: -
Unknown: -
CNV Size: 1400000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH, array SNP (Affymetrix 6.0)
Platform: Agilent Human CGH 1X244A
Software: DNA Analytics 5.0.14; Nexus5 Copy Number, Discovery Edition 5.1
Algorithm: ADM-1
Geographical Ancestry: Ashkenazi Jewish
17q12
Description:
Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
Diagnosis:
Intellectual disability and/or mulitple congenital anomalies
Beunders G , et al. (2013)Cohort Size: 49684
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 1819291
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
Software: -
Algorithm: -
Geographical Ancestry: NA
17q12
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: 100
Female: -
Unknown: -
CNV Size: 174416
Deletion: 2
Duplication: 0
Total CNV: 2
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
17q12
Description:
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
Diagnosis:
Cases diagnosed with ASD
Brandler WM , et al. (2018)Cohort Size: 1979
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 2257
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq X10
Software: -
Algorithm: ForestSV, Lumpy, Manta, Mobster, SV2
Geographical Ancestry: N/A
17q12
Description:
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
Diagnosis:
ASD
Celestino-Soper PB , et al. (2011)Cohort Size: 99
Age Min: -
Age Max: -
Average: -
Male: 33
Female: 67
Unknown: -
CNV Size: 1849452
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
Solid phase hybridization (Illumina 1M SNP), qPCR
Platform: Agilent 1M
Software: Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Algorithm: ADM-2
Geographical Ancestry: -
17q12
Description:
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
Diagnosis:
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Chan AJS et al. (2022)Cohort Size: 325
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1446906
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
Software: ERDS v.1.1, CNVnator v.0.3.2
Algorithm: NA
Geographical Ancestry: Canada
17q12
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: 1390000
Deletion: 20
Duplication: 23
Total CNV: 43
Discovery Method:
aCGH
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
17q12
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: 1702285
Deletion: 10
Duplication: 10
Total CNV: 20
Discovery Method:
Solid phase hybridization
Validation Method:
Yes
Platform: Illumina 1M
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
17q12
Description:
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
Diagnosis:
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
Gai X , et al. (2011)Cohort Size: 631
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1012482
Deletion: 1
Duplication: 2
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Infinium II HumanHap550 BeadChip
Software: BeadStudio 3.0
Algorithm: -
Geographical Ancestry: European
17q12
Description:
Individuals from unrelated families presenting with de novo 14q32.2 deletions affecting the CCNK gene
Diagnosis:
All three cases presented with severe to extremely severe developmental delay/intellectual disability (DD/ID) with profounds delays in language and social communication; two cases also presented with autistic behaviors
Fan Y , et al. (2018)Cohort Size: 3
Age Min: 48
Age Max: 48
Average: 48
Male: 100
Female: -
Unknown: -
CNV Size: 383673
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix CytoScan HD, Illumina HumanCytoSNP-12
Software: -
Algorithm: -
Geographical Ancestry: Chinese
17q12
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: 50
Female: 50
Unknown: -
CNV Size: 1262333
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
WES
Validation Method:
None
Platform: Illumina HumanCoreExome 550K
Software: CoNIFER, XHMM
Algorithm: -
Geographical Ancestry: N/A
17q12
Description:
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
Girirajan S , et al. (2011)Cohort Size: 336
Age Min: -
Age Max: -
Average: -
Male: 86
Female: 14
Unknown: -
CNV Size: 1088070
Deletion: 0
Duplication: 7
Total CNV: 7
Discovery Method:
aCGH
Validation Method:
None
Platform: Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
Software: -
Algorithm: HMM
Geographical Ancestry: -
17q12
Description:
Female patient referred to clinical genetics service for evaluation due to family history of learning difficulties
Diagnosis:
Behavioral problems (attention deficit, hyperactivity, disruptive behavior) and learning difficulties
George AM , et al. (2012)Cohort Size: 1
Age Min: 84
Age Max: 84
Average: 84
Male: -
Female: 100
Unknown: -
CNV Size: 1400000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M
Software: Affymetrix ChAS v.1.0.1
Algorithm: -
Geographical Ancestry: New Zealand
17q12
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: 26
Age Max: 216
Average: 143.5
Male: 3
Female: 3
Unknown: 94
CNV Size: 1410000
Deletion: 26
Duplication: 35
Total CNV: 61
Discovery Method:
aCGH
Validation Method:
FISH, aCGH, or confirmation by inheritance
Platform: BACs aCGH, SignatureChipOS
Software: -
Algorithm: -
Geographical Ancestry: -
17q12
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: 2305459
Deletion: 3
Duplication: 2
Total CNV: 5
Discovery Method:
aCGH
Validation Method:
aCGH (NimbleGen 135K array)
Platform: Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
Software: Agilent Genomic Workbench
Algorithm: ADM-2
Geographical Ancestry: NA
17q12
Description:
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
Diagnosis:
Developmental delay
Girirajan S , et al. (2013)Cohort Size: 31518
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 2305459
Deletion: 14
Duplication: 0
Total CNV: 14
Discovery Method:
N/A
Validation Method:
None
Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: NA
17q12
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: 88437
Deletion: 0
Duplication: 14
Total CNV: 14
Discovery Method:
aCGH
Validation Method:
aCGH (Agilent hotspot 2x400K)
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
17q12
Description:
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
Diagnosis:
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
Guo H , et al. (2018)Cohort Size: 213
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1591999
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
WGS
Validation Method:
aCGH, Sanger sequencing
Platform: Illumina HiSeq X Ten
Software: -
Algorithm: dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
Geographical Ancestry: N/A
17q12
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: 2038419
Deletion: 19
Duplication: 26
Total CNV: 45
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
17q12
Description:
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
Diagnosis:
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Iourov IY , et al. (2013)Cohort Size: 54
Age Min: 28
Age Max: 28
Average: 28
Male: 100
Female: -
Unknown: -
CNV Size: 66288
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: BACs aCGH
Software: -
Algorithm: -
Geographical Ancestry: Russian
17q12
Description:
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
Diagnosis:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
Kanduri C , et al. (2015)Cohort Size: 80
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 1428808
Deletion: 2
Duplication: 2
Total CNV: 4
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina Human OmniExpress-12v1.0 BeadChip
Software: Illumina BeadStudio
Algorithm: QuantiSNP, PennCNV
Geographical Ancestry: Finnish
17q12
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: 80
Female: 20
Unknown: -
CNV Size: 1211925
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
WES
Validation Method:
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
Platform: Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
Software: CoNIFER
Algorithm: DNACopy, CGHCall
Geographical Ancestry: N/A
17q12
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: 64
Female: 36
Unknown: -
CNV Size: 1262332
Deletion: 10
Duplication: 5
Total CNV: 15
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
17q12
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: 108
Age Max: 324
Average: 232.8
Male: 40
Female: 60
Unknown: -
CNV Size: 1851536
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
aCGH
Validation Method:
N/A
Platform: NimbleGen 720K, Agilent 400K
Software: Nexus Copy Number v.9.0
Algorithm: FASST2
Geographical Ancestry: Japanese
17q12
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: 108
Age Max: 324
Average: 232.8
Male: 40
Female: 60
Unknown: -
CNV Size: 1638045
Deletion: 1
Duplication: 0
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
17q12
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: 2031124
Deletion: 2
Duplication: 0
Total CNV: 2
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
17q12
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: 2066629
Deletion: 0
Duplication: 1
Total CNV: 1
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
17q12
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: 1995612
Deletion: 1
Duplication: 0
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
17q12
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: -
Female: 100
Unknown: -
CNV Size: 1487177
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
-
Platform: NimbleGen HD2
Software: -
Algorithm: HMM
Geographical Ancestry: -
17q12
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: 50
Female: -
Unknown: 50
CNV Size: 1434000
Deletion: 0
Duplication: 2
Total CNV: 2
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
17q12
Description:
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
Diagnosis:
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
Leblond CS , et al. (2019)Cohort Size: 36
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1555900
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization, WES
Validation Method:
None
Platform: Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
Software: XHMM
Algorithm: PennCNV, QuantiSNP
Geographical Ancestry: Faroe Islands
17q12
Description:
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
Diagnosis:
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
Leite AJDC et al. (2022)Cohort Size: 369
Age Min: 216
Age Max: 216
Average: 216
Male: 100
Female: -
Unknown: -
CNV Size: 128366
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: Thermofisher GeneChip CytoScanHD
Software: ThermoFisher ChAS v.3.0
Algorithm: NA
Geographical Ancestry: Brazil
17q12
Description:
Autistic patients belonging to a cohort of 53 children with kidney disease (cystic or hyperechogenic kidneys) and a heterozygous deletion encompassing the HNF1B gene.
Diagnosis:
Diagnosis of autism based on American Psychiatric Association criteria and ADI-R scores.
Loirat C , et al. (2010)Cohort Size: 3
Age Min: 42
Age Max: 108
Average: 65.2
Male: 100
Female: -
Unknown: -
CNV Size: 1849783
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
qmPCR
Validation Method:
Solid phase hybridization (Illumina HumanCNV370)
Platform: -
Software: -
Algorithm: -
Geographical Ancestry: France
17q12
Description:
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
Diagnosis:
Diagnosis of ASD made according to DSM-IV
Li SJ , et al. (2018)Cohort Size: 13
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 194285
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Low-coverage WGS
Validation Method:
None
Platform: Illumina HiSeq 2000 or 2500 analyzers
Software: -
Algorithm: PSCC
Geographical Ancestry: Chinese
17q12
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: 100
Female: -
Unknown: -
CNV Size: 1425003
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
WES
Validation Method:
None
Platform: Infinium OmniExpress Exome
Software: NA
Algorithm: PennCNV
Geographical Ancestry: Sweden
17q12
Description:
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
Diagnosis:
ASD
Marshall CR , et al. (2008)Cohort Size: 427
Age Min: -
Age Max: -
Average: -
Male: -
Female: 100
Unknown: -
CNV Size: 975400
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP, karotyping
Validation Method:
qPCR, qmPCR
Platform: Affymetrix 500K
Software: -
Algorithm: dChip, CNAG, GEMCA
Geographical Ancestry: 90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
17q12
Description:
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
Diagnosis:
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
Morrow EM , et al. (2008)Cohort Size: 94
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 33000
Deletion: 0
Duplication: 4
Total CNV: 4
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 500K
Software: dChip
Algorithm: BRLMM
Geographical Ancestry: Arabic Middle East, Turkey, and Pakistan
17q12
Description:
Samples from International Standards for Cytogenomic Arrays (ISCA) Consortium
Diagnosis:
ASD (referring diagnosis in 15-20% of cases), developmental delay, and/or intellectual disability
Moreno-De-Luca D , et al. (2010)Cohort Size: 15749
Age Min: 12
Age Max: 12
Average: 12
Male: 47
Female: 53
Unknown: -
CNV Size: 1400000
Deletion: 18
Duplication: 21
Total CNV: 39
Discovery Method:
aCGH
Validation Method:
FISH, qPCR
Platform: Agilent 4x44K, 2x105K, 4x180K
Software: -
Algorithm: -
Geographical Ancestry: -
17q12
Description:
Samples from SSC and deCODE Genetic (Iceland)
Diagnosis:
ASD/neurodevelopmental delay
Moreno-De-Luca D , et al. (2010)Cohort Size: 1182
Age Min: 12
Age Max: 12
Average: 12
Male: 47
Female: 53
Unknown: -
CNV Size: 1400000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
-
Platform: Illumina Human 1M and 1M Duo microarrays (SSC samples), Illumina SNP microarrays (all others)
Software: BeadStudio
Algorithm: PennCNV, CNVision v1.0 (PennCNV, QuantiSNP v1.1, GNOSIS)
Geographical Ancestry: 31 Chinese, 728 European American, 6 Japanese, 41 African American, 376 Icelandic
17q12
Description:
Samples from SGENE Consortium and GAIN
Diagnosis:
Schizophrenia
Moreno-De-Luca D , et al. (2010)Cohort Size: 6340
Age Min: 12
Age Max: 12
Average: 12
Male: 47
Female: 53
Unknown: -
CNV Size: 1400000
Deletion: 4
Duplication: 0
Total CNV: 4
Discovery Method:
Array SNP
Validation Method:
-
Platform: Affymetrix 6.0, Illumina
Software: -
Algorithm: Penn CNV
Geographical Ancestry: 565 Denmark, 648 Scotland, 1086 Germany, 91 UK, 84 Italy, 187 Finland, 613 Holland, 274 Norway, 625 Iceland, 952 African American, 1215 European American
17q12
Description:
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
Diagnosis:
Cases assessed with ADI-R
Nava C , et al. (2013)Cohort Size: 194
Age Min: 195
Age Max: 195
Average: 195
Male: 100
Female: -
Unknown: -
CNV Size: 76000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
Software: GenomeStudio v.2011.1, CNVPartition v.3.1.6
Algorithm: -
Geographical Ancestry: France
17q12
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: 984236
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
Solid phase hybridization
Platform: Affymetrix 6.0
Software: Affymetrix power tools software v1.12.0
Algorithm: GLAD, GADA, BEAST
Geographical Ancestry: Ashkenazi Jewish
17q12
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: 67
Female: 33
Unknown: -
CNV Size: 120120
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
Platform: Illumina Infinium 1M SNP microarray
Software: -
Algorithm: QuantiSNP, iPattern
Geographical Ancestry: European
17q12
Description:
12-year-old male patient born to non-consanguineous parents with no family history of intellectual disability, autism, or other psychiatric illness
Diagnosis:
Intellectual disability, speech delay, autistic features, and ADHD
Palumbo P , et al. (2014)Cohort Size: 1
Age Min: 144
Age Max: 144
Average: 144
Male: 100
Female: -
Unknown: -
CNV Size: 1428000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
Array SNP (Affymetrix CytoScan HD array)
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: Birdseed v2
Geographical Ancestry: Italy
17q12
Description:
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
Diagnosis:
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
Prasad A , et al. (2013)Cohort Size: 676
Age Min: -
Age Max: -
Average: -
Male: 67
Female: 33
Unknown: -
CNV Size: 976668
Deletion: 3
Duplication: 3
Total CNV: 6
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 1M
Software: DNA Analytics v4.0.85 (Agilent), DNAcopy
Algorithm: ADM-2, DNAcopy (R Bioconductor)
Geographical Ancestry: Canada
17q12
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: 33
Female: 67
Unknown: -
CNV Size: 423307
Deletion: 2
Duplication: 1
Total CNV: 3
Discovery Method:
WES
Validation Method:
None
Platform: Agilent SureSelect Human All Exon v.2
Software: -
Algorithm: XHMM
Geographical Ancestry: European
17q12
Description:
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
Diagnosis:
Cases classified according to ADOS and ADI-R
Pinto D , et al. (2014)Cohort Size: 1359
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1702286
Deletion: 0
Duplication: 2
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR, MLPA, long-range PCR
Platform: Illumina 1M (v.1 and v.3)
Software: -
Algorithm: -
Geographical Ancestry: Predominantly European
17q12
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: 1128477
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
FISH
Platform: BACs aCGH, whole-genome oligo-aCGH
Software: -
Algorithm: -
Geographical Ancestry: -
17q12
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: 1459097
Deletion: 3
Duplication: 0
Total CNV: 3
Discovery Method:
Solid phase hybridization
Validation Method:
qPCR
Platform: Illumina InfiniumII HumanHap610
Software: -
Algorithm: PennCNV
Geographical Ancestry: 81.31% Caucasian
17q12
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: 100
Unknown: -
CNV Size: 1367000
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanOmniExpress BeadChip
Software: Illumina Genome Viewer
Algorithm: PennCNV
Geographical Ancestry: Caucasian
17q12
Description:
17-year-old male proband of Caucasian descent
Diagnosis:
Diagnoses of autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and obsessive compulsve behavior (OCD); diagnostic tools N/A. Additional diagnosis of intellectual disability (ID; full scale IQ of 66 using Wechsler Intelligence Scale for Children-IV)
Roberts JL , et al. (2014)Cohort Size: 1
Age Min: 204
Age Max: 204
Average: 204
Male: 100
Female: -
Unknown: -
CNV Size: 1887262
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
FISH
Platform: Ambry CMA 400K CGH + SNP array (300K aCGH probes, 100K SNP probes)
Software: BioDiscovery Nexus
Algorithm: -
Geographical Ancestry: Caucasian
17q12
Description:
38 Danish patients (19 index patients and 19 family members) diagnosed with 17q12 deletions and duplications since chromosomal microarray (CMA) became a clinically available diagnostic tool in Denmark in 2006
Diagnosis:
Majority of cases presented with learning disability, delayed motor milestones, and/or delayed language development
Rasmussen M , et al. (2016)Cohort Size: 38
Age Min: 2
Age Max: 648
Average: 229.38235294118
Male: 39
Female: 61
Unknown: -
CNV Size: 1400000
Deletion: 12
Duplication: 26
Total CNV: 38
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Agilent 180K, Agilent 400K, Oxford Gene Technology CytoSure Syndrome Plus v2 105K, Illumina HumanCytoSNP-12 v2.1 300K, Affymetrix 250K
Software: -
Algorithm: -
Geographical Ancestry: Denmark
17q12
Description:
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
Diagnosis:
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Quintela I , et al. (2017)Cohort Size: 573
Age Min: 144
Age Max: 144
Average: 144
Male: -
Female: 100
Unknown: -
CNV Size: 1860549
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Software: Affymetrix ChAS v.1.2.2
Algorithm: -
Geographical Ancestry: North West Spain
17q12
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: 56
Female: 44
Unknown: -
CNV Size: 1680362
Deletion: 13
Duplication: 1
Total CNV: 14
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&
17q12
Description:
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
Diagnosis:
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
Shen Y , et al. (2010)Cohort Size: 848
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1400000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
aCGH, array SNP
Validation Method:
None
Platform: Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
Software: CGH Analytics, DNA Analytics software
Algorithm: BRLMM, CNAT4, Partek Genomic Suite
Geographical Ancestry: -
17q12
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: 24
Age Max: 36
Average: 30
Male: 100
Female: -
Unknown: -
CNV Size: 1638000
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent SurePrint G3 Unrestricted CGH ISCA v2
Software: Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
Algorithm: -
Geographical Ancestry: Croatia
17q12
Description:
Serially ascertained sample of patients with SHANK3 deficiency evaluated over an 18-month period.
Diagnosis:
27/32 (84%) of cases met criteria for ASD; evaluation for ASD made using ADI-R and ADOS-G. 29/30 cases with some degree of intellectual disability (77% with severe-to-profound ID); evaluation for ID made using Mullen Scales of Early Learning (27 cases), Stanford-Binet Intelligence Scales, 5th ed. (1 case), and Leiter-R (2 cases).
Soorya L , et al. (2013)Cohort Size: 32
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1433875
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
Karyotyping, FISH, aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix 6.0
Software: -
Algorithm: -
Geographical Ancestry: Caucasian
17q12
Description:
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
Diagnosis:
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
Tammimies K , et al. (2015)Cohort Size: 258
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 1807231
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
Software: Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
Algorithm: QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Geographical Ancestry: Canada
17q12
Description:
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
Diagnosis:
All cases fulfilled DSM-V criteria for autism
Soueid J , et al. (2016)Cohort Size: 41
Age Min: -
Age Max: -
Average: -
Male: 50
Female: -
Unknown: 50
CNV Size: 120000
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
17q12
Description:
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Diagnosis:
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
Soueid J , et al. (2016)Cohort Size: 35
Age Min: -
Age Max: -
Average: -
Male: 50
Female: -
Unknown: 50
CNV Size: 0
Deletion: 0
Duplication: 0
Total CNV: 0
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 2.7M, Affymetrix CytoScan
Software: Affymetrix ChAS
Algorithm: -
Geographical Ancestry: Lebanon
17q12
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: 979000
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
17q12
Cohort Size: 1158
Age Min: 42
Age Max: 199
Average: 120.5
Male: 100
Female: -
Unknown: -
CNV Size: 95674
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH, array SNP, solid phase hybridization
Validation Method:
None
Platform: Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
Software: -
Algorithm: -
Geographical Ancestry: Canadian
17q12
Description:
Replication cohort consisting of patients referred to the Mayo Clinic
Diagnosis:
Autism or pervasive developmental disorder (PDD)
Vaags AK , et al. (2012)Cohort Size: 1796
Age Min: 42
Age Max: 199
Average: 120.5
Male: 100
Female: -
Unknown: -
CNV Size: 32952
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 44K & 244K
Software: -
Algorithm: -
Geographical Ancestry: NA
17q12
Description:
Patients referred for aCGH analysis from 2008-present
Diagnosis:
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Tzetis M , et al. (2012)Cohort Size: 334
Age Min: -
Age Max: -
Average: -
Male: 100
Female: -
Unknown: -
CNV Size: 2700000
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
aCGH
Validation Method:
None
Platform: Agilent 244K, Agilent 4x180K
Software: Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
Algorithm: ADM-1
Geographical Ancestry: Greece
17q12
Description:
ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
Diagnosis:
ASD
Wenger TL , et al. (2016)Cohort Size: 62
Age Min: -
Age Max: -
Average: -
Male: -
Female: -
Unknown: 100
CNV Size: 87719
Deletion: 1
Duplication: 1
Total CNV: 2
Discovery Method:
Solid phase hybridization
Validation Method:
None
Platform: Illumina HumanHap 550 or Illumina Human610-Quad v1.0
Software: -
Algorithm: PennCNV
Geographical Ancestry: N/A
17q12
Description:
Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
Diagnosis:
All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
Wang J et al. (2020)Cohort Size: 95
Age Min: 55
Age Max: 55
Average: 55
Male: 100
Female: -
Unknown: -
CNV Size: 1690205
Deletion: 1
Duplication: 0
Total CNV: 1
Discovery Method:
WGS
Validation Method:
None
Platform: Illumina HiSeq 2000
Software: Short Oligonucleotide Analysis Package (SOAP) v.2.21
Algorithm: -
Geographical Ancestry: Han Chinese
17q12
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: -
Female: 100
Unknown: -
CNV Size: 1834899
Deletion: 0
Duplication: 1
Total CNV: 1
Discovery Method:
CMA
Validation Method:
None
Platform: NA
Software: NA
Algorithm: NA
Geographical Ancestry: Dutch Caribbean
17q12
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: 82100
Deletion: 2
Duplication: 0
Total CNV: 2
Discovery Method:
Array SNP
Validation Method:
None
Platform: Affymetrix 6.0
Software: Affymetrix Genotyping Console v.4.1
Algorithm: -
Geographical Ancestry: Han Chinese
17q12
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: 1732499
Deletion: 1
Duplication: 3
Total CNV: 4
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
battaglia_13_DD/ID/ASD_discovery_cases-case40
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: 2 yrs. 6 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 30697393
CNV End: 32040195
CNV Size: 1342803
Validation Description: FISH or qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RN7SL316P, RNU6-298P, RN7SL138P, DPRXP4, MIR4733, EVI2A, AK4P1, RN7SL79P, RN7SL45P, MIR4724, MIR193A, RNU6ATAC7P, MIR4725, MIR365B, RNU6-1134P, COPRS, RNA5SP437, SH3GL1P1, SUZ12P1, ATAD5, TEFM, RNF135, OMG, EVI2B, UTP6, LRRC37B, CRLF3, ADAP2, NF1, SUZ12, RAB11FIP4
beunders_13_DD/ID/ASD_discovery_cases-case40
Clinical Profile:
Clinical profile: N/A
Cognitive Profile:
Cognitive profile: N/A
Beunders G , et al. (2013)Primary Diagnosis: DD/ID and/or MCA
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 345925
CNV End: 2086753
CNV Size: 1740829
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
brandt_12_ASD_discovery_cases-case1
Clinical Profile:
Diagnosis of autism based on evaluation using ADOS-G Module 1, ADI-R, and psychiatric evaluation by psychiatrist with ASD clinical expertise. Birth/neonatal history: born at 36 weeks to 40 and 46 yr old parents via planned C-section due to prior maternal fibroid surgery; no reported abnormalities on prenatal ultrasound; no perinatal complications; birth weight 50th %ile. Devleopmental milestones: delayed milestones; first sat unsupported at 12 months, first crawled at 18 months, first walked at 24 months; first use of single words at 3 years; no reported regression or loss of skills. Language and communication evaluation: vocabulary of five words at age of 5 yrs.; significant impairment in receptive and expressive language domains; no capacity for joint attention or three-point gaze; typically pulled other's hands to desired objects; no development of oral-motor imitation skills. Behavioral/psychiatric evaluation: repetitive & compulsive-like behaviors (hyperventilating accompanied by loud stereotypic vocalizations, opening and closing of pop-up toy door, hand flapping while stomping feet); engagement in largely self-directed behavior during ADOS-G evaluation; several critical early social behaviors inconsistent or absent (responding to name, initiating shared attention); lack of pointing to reference objects or use of conventional gestures (nodding or shrugging); lack of normalized play, functional or pretend, with toys (interest in toys largely sensory in nature, e.g. mouthing toys); unusual sensory interests (rubbing mother's sock and examiner'shand). EEG: normal except for background slowing (administered while awake). Brain imaging: mildly enlarged ventricles on MRI. Other medical concerns & comorbidities: mild constipation. Dysmorphic features: bilateral parietal bossing, bushy eyebrows, thick eyelashes, bilateral epicanthal folds, apparent hypertelorism, posteriorly rotated ears, broad nasal bridge, thin vermillion of upper lip, small separated teeth, two cafe au lait macules on back. Growth parameters: height, 10-25th %ile; weight, 75th %ile; head circumference, 95th %ile. Family history: only child of non-consanguineous parents of Ashkenazi Jewish origin; no family history of intellectual disability, autism/ASD, or other psychiatric illness.
Cognitive Profile:
Global development delay. Performance of Mullen Scales of Early Learning ranged from 6-month-level to 15-month level, depedning on subtest. Adaptive behavior scores (determined by VABS-II) significantly below that of same-aged peers, but consistent with overall level of cognitive functioning.
Brandt T , et al. (2012)Primary Diagnosis: Autism
Age: 5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 694274
CNV End: 2128124
CNV Size: 1433851
Validation Description: FISH, array SNP (Affymetrix 6.0)
Primary Disorder Inheritence: -
CNV Inheritance: De novo, maternal chromosome
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
bremer_11_ASD_discovery_cases-case36
Clinical Profile:
Non-syndromic ASD, sporadic case
Cognitive Profile:
MR (IQ<70)
Bremer A , et al. (2011)Primary Diagnosis: ASD
Age: 48
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 35350467
CNV End: 35459643
CNV Size: 109177
Validation Description: MLPA, FISH
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
celestino-soper_11_ASD_discovery_cases-11335
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 323573
CNV End: 415644
CNV Size: 92072
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
celestino-soper_11_ASD_discovery_cases-11353
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 389599
CNV End: 2210588
CNV Size: 1820990
Validation Description: Solid phase hybridization (Illumina 1M SNP), qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
celestino-soper_11_ASD_discovery_cases-11399
Primary Diagnosis: ASD
Age: NA
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1645476
CNV End: 1645849
CNV Size: 374
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case285
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case286
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case287
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case288
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case289
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case290
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case291
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case292
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case293
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case294
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case295
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case296
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case297
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case298
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case299
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case300
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case301
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case302
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case303
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case304
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case305
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case306
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case307
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case308
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case309
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case310
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case311
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case312
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case313
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case314
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case315
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case316
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case317
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case318
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case319
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case320
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case321
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case322
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case323
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case324
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case325
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case326
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
coe_14_ASD/DD/ID_discovery_cases-case327
Primary Diagnosis: Intellectual disability, developmental delay, and/or ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2084952
CNV Size: 1389976
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case1140_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case13035_443
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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case14052_890
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: 39249404
CNV End: 39304188
CNV Size: 54785
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case14315_4320
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: 694163
CNV End: 2128871
CNV Size: 1434709
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20053_1279001
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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20066_1318001
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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20089_1391001
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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case20116_1557001
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: 342780
CNV End: 698812
CNV Size: 356033
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case2295_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case3431_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case4033_100
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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case4306_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case4406_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: 39387196
CNV End: 39420164
CNV Size: 32969
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: MED1, FBXL20
engchuan_15_ASD_discovery_cases-case4553_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case5056_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: 39202429
CNV End: 39322548
CNV Size: 120120
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: -
Genome Build: GRCh38
Gene Content: RPL19, STAC2, FBXL20
engchuan_15_ASD_discovery_cases-case5227_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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case6005_5
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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case6024_7
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: 35357016
CNV End: 35441180
CNV Size: 84165
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
engchuan_15_ASD_discovery_cases-case6242_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: 333773
CNV End: 698253
CNV Size: 364481
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
engchuan_15_ASD_discovery_cases-case8451_201
Clinical Profile:
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
Cognitive Profile:
-
Engchuan W , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 694641
CNV End: 797033
CNV Size: 102393
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
gai_11_ASD_discovery_cases-AU1551302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 31436315
CNV End: 31889664
CNV Size: 453350
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: CCL3, CCL4, TBC1D3B, CCL3L3, CCL3L1, CCL4L1, CCL4L2, TBC1D3C, TBC1D3F, CCL3L1, CCL3L3, CCL4L2, CCL4L1, TBC1D3H, TBC1D3C, TBC1D3F, TBC1D3G
gai_11_ASD_discovery_cases-AU1559302
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28973892
CNV End: 29973811
CNV Size: 999920
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: ACCN1, CCL2, CCL7, CCL11, CCL8, CCL13, CCL1, C17orf102, TMEM132E
gai_11_ASD_discovery_cases-AU1559303
Primary Diagnosis: Autism
Age: -
Gender: -
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 28984361
CNV End: 29996842
CNV Size: 1012482
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Inherited
Family Profile: -
Genome Build: Unknown
Gene Content: ACCN1, CCL2, CCL7, CCL11, CCL8, CCL13, CCL1, C17orf102, TMEM132E
george_11_DD_discovery_cases-case1
Clinical Profile:
Language and communication evaluation: normal langauge. Behavioral/psychiatric evaluation: attention deficit, hyperactivity, disruptive behavior; normal social reciprocity and mood. Other features: no renal tract abnormalities noted on ultrasound. Growth parameters: weight of 24.5 kg (75th %ile), height of 122 cm (50th %ile), head circumference of 53.5 cm (75th-90th %ile). Family history: younger male sibling with mild developmental delay (mild gross motor delay) and bilateral renal cystic disease (sibling carries 17q12 microdeletion); mother, who was adopted, has learning difficulties, but is able to read and write and has no behavioral issues; father has significant learning difficulties and is unable to read or write, but has no behavioral issues; paternal uncle with low normal intelligence and stuttering; paternal grandmother with learning difficulties.
Cognitive Profile:
Learning difficulties. General cognitive ability within low-average range (19th %ile) as measured by Full-scale IQ (Wechsler Intelligence Scale for Children-4th ed.)
George AM , et al. (2012)Primary Diagnosis: Behavioral problems and learning difficulties
Age: 7 yrs.
Gender: F
Primary Disorder Inheritence: Both parents (learning difficulties)
Family Profile: Multiplex (for neurodevelopmental/neuropsychiatric disorders)
CNV Start: 727982
CNV End: 2128496
CNV Size: 1400515
Validation Description: -
Primary Disorder Inheritence: Both parents (learning difficulties)
CNV Inheritance: Maternal
Family Profile: Multiplex (for neurodevelopmental/neuropsychiatric disorders)
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si114
Clinical Profile:
ADOS score: 8. Vineland composite score: 96.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 121; Verbal IQ, 119; Non-verbal IQ, 119.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 11
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1054952
CNV End: 1204952
CNV Size: 150001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si177
Clinical Profile:
ADOS score: 8. Vineland composite score: 80.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 80; Verbal IQ, 96; Non-verbal IQ, 75.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si38
Clinical Profile:
ADOS score: 10. Vineland composite score: 70.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 130; Verbal IQ, 116; Non-verbal IQ, 131.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 15
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si54
Clinical Profile:
ADOS score: NA. Vineland composite score: NA
Cognitive Profile:
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33602613
CNV End: 34690683
CNV Size: 1088071
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
girirajan_11_ASD_discovery_cases-Si54
Clinical Profile:
ADOS score: NA. Vineland composite score: NA
Cognitive Profile:
Mental retardation/intellectual disability: unknown. Full-scale IQ, NA; Verbal IQ, NA; Non-verbal IQ, NA.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 8
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33635497
CNV End: 34576480
CNV Size: 940984
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, ASIC2
girirajan_11_ASD_discovery_cases-Si82
Clinical Profile:
ADOS score: 4. Vineland composite score: 81.
Cognitive Profile:
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 104; Non-verbal IQ, 100.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 14
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_11_ASD_discovery_cases-Si89
Clinical Profile:
ADOS score: 10. Vineland composite score: 60.
Cognitive Profile:
Moderate mental retardation/intellectual disability. Full-scale IQ, 43; Verbal IQ, 32; Non-verbal IQ, 62.
Girirajan S , et al. (2011)Primary Diagnosis: Autism
Age: 17
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1432
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1433
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1434
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1435
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1436
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1437
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1438
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1439
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1440
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1441
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1442
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1443
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1444
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1445
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1446
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1447
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1448
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1449
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1450
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1451
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1452
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1453
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1454
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1455
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1456
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1457
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1458
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1459
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1460
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1461
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1462
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1463
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1464
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1465
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1466
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1467
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1468
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1469
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1470
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1471
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1472
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1473
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1474
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1475
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1476
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1477
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1478
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1479
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1480
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1481
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1482
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1483
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1484
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1485
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1486
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case1487
Primary Diagnosis: Developmental delay
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: NA
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case24512
Clinical Profile:
Behavioral problems: anxiety. Hypotonia, muscle weakness. Seizures. Nondysmorphic. Growth parameters: normal height and weight, mild macrocephaly. Family history: not specified.
Cognitive Profile:
Moderate-to-severe ID
Girirajan S , et al. (2012)Primary Diagnosis: Intellectual disability
Age: 13 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case27522
Clinical Profile:
Speech delay. Behavioral problems: ADHD, Tourette syndrome. Normal tone. Movement disorder. Nondysmorphic. Other features: osteochondroma on right femur. Growth parameters: height 90th %ile, OFC +1.0 SD. Family history: mother and twin brother with Tourette syndrome; hearing loss in father, post-infection.
Cognitive Profile:
Developmental delay; in special education
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 14 yrs. 8 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex for Tourette syndrome
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Multiplex for Tourette syndrome
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case28231
Clinical Profile:
Congenital anomalies: MRKH syndrome, polycystic kidneys. All other measures not specified.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: MCA
Age: 18 yrs.
Gender: F
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case31576
Clinical Profile:
Motor delays. Hypotonia, unsteady gait, lack of coordination. Nondysmorphic. Congenital anomalies: cystic kidney disease, vesicoureteral reflux. Other features: vertical nystagmus. Growth parameters: height 30th %ile, OFC +1.0 SD. Family history: healthy parents.
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: Developmental delay
Age: 26 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_12_ASD/DD/ID_discovery_cases-case52609
Clinical Profile:
Cystic kidneys, absent bladder and small stomach; patient deceased
Cognitive Profile:
NA
Girirajan S , et al. (2012)Primary Diagnosis: MCA
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694977
CNV End: 2104952
CNV Size: 1409976
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-11002.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1983969
CNV End: 2142084
CNV Size: 158116
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-11234.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1365094
CNV End: 1537715
CNV Size: 172622
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-11353.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_ASD_discovery_cases-12242.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 33638868
CNV End: 34638868
CNV Size: 1000001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
girirajan_13a_ASD_discovery_cases-13085.p1
Clinical Profile:
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: aCGH (NimbleGen 135K array)
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase371
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase372
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase373
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase374
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase375
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase376
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase377
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase378
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase379
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase380
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase381
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase382
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase383
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13a_DD_discovery_cases-DDcase384
Primary Diagnosis: Developmental delay
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: -
CNV Start: 238518
CNV End: 2142084
CNV Size: 1903567
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: -
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-20008109910
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-21907108174
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-23204100689
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-25807108397
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 325376
CNV End: 389261
CNV Size: 63886
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-28208110205
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 316058
CNV End: 389261
CNV Size: 73204
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-29905103852
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 316263
CNV End: 389261
CNV Size: 72999
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-29908110268
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-38806106786
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1358130
CNV End: 1424429
CNV Size: 66300
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-47306107043
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-5603100206
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-8203100466
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1344292
CNV End: 1432729
CNV Size: 88438
Validation Description: aCGH (Agilent hotspot 2x400K)
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-909110667
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1349393
CNV End: 1424429
CNV Size: 75037
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-9605102926
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 325376
CNV End: 387331
CNV Size: 61956
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
girirajan_13b_ASD_discovery_cases-9908109393
Clinical Profile:
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: African American
Cognitive Profile:
N/A
Girirajan S , et al. (2013)Primary Diagnosis: Autism
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 322875
CNV End: 389261
CNV Size: 66387
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
iourov_12_ASD/ID/EP_discovery_cases-case20
Clinical Profile:
Syndactyly, facial dysmorphisms
Cognitive Profile:
Mild developmental delay and cognitive delay
Iourov IY , et al. (2013)Primary Diagnosis: Developmental delay
Age: 2 yrs. 4 mos.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 194822
CNV End: 261110
CNV Size: 66289
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000028
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000740
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2127983
CNV Size: 1770051
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000783
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000912
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000973
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001033
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001063
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001192
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001230
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001653
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 728878
CNV End: 2142084
CNV Size: 1413207
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002203
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 39365569
CNV End: 39612092
CNV Size: 246524
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RNU6-233P, NEUROD2, MED1, CDK12, FBXL20
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002565
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 267696
CNV End: 2088293
CNV Size: 1820598
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002673
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694274
CNV End: 2088293
CNV Size: 1394020
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002712
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33642695
CNV End: 34549211
CNV Size: 906517
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, LINC01989, CCL13, ASIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003791
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2127983
CNV Size: 1770051
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003904
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003922
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33715517
CNV End: 34301601
CNV Size: 586085
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, LINC01989, ASIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003953
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2142084
CNV Size: 1447922
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004070
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004094
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 35360337
CNV End: 35411448
CNV Size: 51112
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004137
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 696512
CNV End: 2052828
CNV Size: 1356317
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004138
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 778891
CNV End: 2103254
CNV Size: 1324364
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004188
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2052828
CNV Size: 1694896
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004238
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004279
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004355
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 1837826
CNV End: 2103254
CNV Size: 265429
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004410
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 696512
CNV End: 2047169
CNV Size: 1350658
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004466
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 218526
CNV End: 2142084
CNV Size: 1923559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004512
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 778891
CNV End: 2103254
CNV Size: 1324364
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004671
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004718
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004777
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 730597
CNV End: 2052828
CNV Size: 1322232
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004800
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004828
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004936
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004961
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 218526
CNV End: 2142084
CNV Size: 1923559
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005072
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005089
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 357933
CNV End: 2052828
CNV Size: 1694896
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005119
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005170
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005213
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 33670906
CNV End: 34596087
CNV Size: 925182
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005227
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 778891
CNV End: 2056793
CNV Size: 1277903
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005255
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 734919
CNV End: 2128124
CNV Size: 1393206
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005297
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 735119
CNV End: 2127983
CNV Size: 1392865
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005316
Clinical Profile:
Clinical profile NA
Cognitive Profile:
Cognitive profile NA
Kaminsky EB , et al. (2011)Primary Diagnosis: Developmental delay/intellectual disability/ASD
Age: NA
Gender: NA
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 694163
CNV End: 2127983
CNV Size: 1433821
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: -
kanduri_15_ASD_discovery_cases-case1831
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34815551
CNV End: 36244358
CNV Size: 1428808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3
kanduri_15_ASD_discovery_cases-case1890
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 36194230
CNV End: 36223325
CNV Size: 29096
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: LOC284100 (non-coding RNA, exonic)
kanduri_15_ASD_discovery_cases-case1966
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34453522
CNV End: 34466631
CNV Size: 13110
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Unknown
Genome Build: Unknown
Gene Content: Intergenic CNV: nearest genes, CCL4(dist=20508),TBC1D3B(dist=26430)
kanduri_15_ASD_discovery_cases-case3063
Clinical Profile:
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
Cognitive Profile:
-
Kanduri C , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 34815551
CNV End: 36244358
CNV Size: 1428808
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3
krumm_13_ASD_discovery_cases-case11196.p1
Clinical Profile:
ASD proband from SSC quad family 11196. SRS score of 80.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 112.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_13_ASD_discovery_cases-case11353.p1
Clinical Profile:
ASD proband from SSC quad family 11353. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 79.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 772005
CNV End: 1983940
CNV Size: 1211936
Validation Description: Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_13_ASD_discovery_cases-case11459.p1
Clinical Profile:
ASD proband from SSC quad family 11459. SRS score of 90.
Cognitive Profile:
Full-scale IQ (FSIQ) score of 80.
Krumm N , et al. (2013)Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35855062
CNV End: 35856805
CNV Size: 1744
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HEATR9, TAF15
krumm_15_ASD_discovery_cases-case11196.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case11234.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 1365355
CNV End: 1519371
CNV Size: 154017
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case11459.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35855062
CNV End: 35856224
CNV Size: 1163
Validation Description: Illumina 1M
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: HEATR9, TAF15
krumm_15_ASD_discovery_cases-case12057.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35265071
CNV End: 35442286
CNV Size: 177216
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13, SLFN5
krumm_15_ASD_discovery_cases-case12334.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35878527
CNV End: 35880305
CNV Size: 1779
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case12803.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35116858
CNV End: 35121902
CNV Size: 5045
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: RAD51L3-RFFL, RAD51D, FNDC8
krumm_15_ASD_discovery_cases-case12950.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 39160590
CNV End: 39165139
CNV Size: 4550
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13006.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case13085.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 721603
CNV End: 1983940
CNV Size: 1262338
Validation Description: Illumina 1MDuo
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13620.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35258690
CNV End: 35265888
CNV Size: 7199
Validation Description: 1M-Duov3
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case13962.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 153781
CNV End: 305929
CNV Size: 152149
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case14098.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Trio
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 159135
CNV End: 252462
CNV Size: 93328
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
krumm_15_ASD_discovery_cases-case14229.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Female
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case14303.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
krumm_15_ASD_discovery_cases-case14477.p1
Clinical Profile:
Proband from the Simons Simplex Collection (SSC). Family type: Quad
Cognitive Profile:
-
Krumm N , et al. (2015)Primary Diagnosis: ASD
Age: N/A
Gender: Male
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 35352355
CNV End: 35442286
CNV Size: 89932
Validation Description: Omni2.5-4v1
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: SLFN11, SLFN12, SLFN13
leppa_16_ASD_discovery_cases-AU1559302
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 33632981
CNV End: 34608981
CNV Size: 976001
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: Paternal
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
leppa_16_ASD_discovery_cases-AU3727303
Clinical Profile:
SRS total score 93
Cognitive Profile:
Raven's non-verbal IQ N/A, PPVT 62
Leppa VM , et al. (2016)Primary Diagnosis: ASD
Age: N/A
Gender: N/A
Primary Disorder Inheritence: -
Family Profile: Multiplex
CNV Start: 694641
CNV End: 2128865
CNV Size: 1434225
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Multiplex
Genome Build: GRCh38
Gene Content: -
levy_11_ASD_discovery_cases-11353.p1
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 694163
CNV End: 2100765
CNV Size: 1406603
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
li_18_ASD_discovery_cases-case6301
Primary Diagnosis: ASD
Age: N/A
Gender: M
Primary Disorder Inheritence: -
Family Profile: Simplex
CNV Start: 134852
CNV End: 255646
CNV Size: 120795
Validation Description: -
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Simplex
Genome Build: GRCh38
Gene Content: -
loirat_10_ASD_discovery_cases-patient1
Clinical Profile:
ADI-R evaluation (age of examination, 9.3 yrs.): social interaction score, 27; communication and language score, 14; restricted and repetitive behaviors score, 9; onset before age 3 score, 5. Developmental milestones: lack of contact and stereotyped behavior noted at 3 months; sitting position at 12 months; started to walk at 22 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 12 months. Developmental quotient (Brunet-Lezine-R scale): 19. Brain imaging: mild ventricular dilatation. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical hyperechogenicity and cysts, right pyelectasis, and left hypoplasia; moderate renal failure and mild cholestasis. Growth parameters: height, 130 cm (0 SD); weight, 26 kg (0 SD); head circumference, +2 SD.
Cognitive Profile:
Developmental delay/mental retardation.
Loirat C , et al. (2010)Primary Diagnosis: Autism
Age: 9 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31543875
CNV End: 33371626
CNV Size: 1827751
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: CCL3L1, CCL3L3, CCL4L2, CCL4L1, TBC1D3F, TBC1D3C, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B
loirat_10_ASD_discovery_cases-patient2
Clinical Profile:
ADI-R evaluation (age of examination, 2.3 yrs.): social interaction score, 21; communication and language score, 10; restricted and repetitive behaviors score, 6; onset before age 3 score, 5. Developmental milestones: lack of contact and stereotyped behaviors noted at 2 months; sitting position at 10 months; started to walk at 18 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 8 months. Developmental quotient (Brunet-Lezine-R scale): 23. Brain imaging: mild ventricular dilatation. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical cysts. Growth parameters: height, 101 cm (+1 SD); weight, 16 kg (+1 SD); head circumference, normal.
Cognitive Profile:
Developmental delay/mental retardation.
Loirat C , et al. (2010)Primary Diagnosis: Autism
Age: 3.5 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31889664
CNV End: 33386049
CNV Size: 1496385
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B
loirat_10_ASD_discovery_cases-patient3
Clinical Profile:
ADI-R evaluation (age of examination, 3.4 yrs.): social interaction score, 26; communication and language score, 13; restricted and repetitive behaviors score, 4; onset before age 3 score, 5. Developmental milestones: lack of contact noted at 6 months; stereotyped behaviors noted at 18 months; sitting position at 9 months; started to walk at 18 months. Communication developmental age (using Reynell Scale and Early Social Communication Scales): 3 months. Developmental quotient (Brunet-Lezine-R scale): 26. Brain imaging: not documented. Kidney disease: diagnosed by prenatal ultrasonography; renal ultrasonography revealed cortical hyperechogenicity. Growth parameters: height, 103 cm (+1 SD); weight, 16 kg (+1 SD); head circumference, normal.
Cognitive Profile:
Developmental delay/mental retardation.
Loirat C , et al. (2010)Primary Diagnosis: Autism
Age: 3.8 yrs.
Gender: M
Primary Disorder Inheritence: -
Family Profile: Unknown
CNV Start: 31550027
CNV End: 33399810
CNV Size: 1849783
Validation Description: Solid phase hybridization (Illumina HumanCNV370)
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: Unknown
Gene Content: CCL4L2, CCL4L1, TBC1D3F, TBC1D3C, CCL3L1, CCL3L3, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B
marshall_08_ASD_discovery_cases-SK0284-003
Primary Diagnosis: ASD
Age: NA
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 33634168
CNV End: 34609568
CNV Size: 975401
Validation Description: qPCR, qmPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: TLK2P1, RNA5SP438, CCL2, CCL7, CCL11, CCL8, CCL1, C17orf102, LINC01989, CCL13, TMEM132E, ASIC2
moreno-de-luca_10_ASD_discovery_cases-case1
Clinical Profile:
Depression, migraines
Cognitive Profile:
Normal intellect
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: Depression
Age: 19
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case2
Clinical Profile:
Deficits in coordination and motor skills, language impairment, aggression, unusual phobias, hyperactivity, short attention span, extremely selective diet
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 4
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case3
Clinical Profile:
Deficits in coordination and motor skills, language impairment, anxiety, occasional unmotivated giggling, extremely selective diet
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 7
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case4
Clinical Profile:
Deficits in coordination and motor skills, language impairment, mood changes, OCD
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 12
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case5
Clinical Profile:
Anxiety, bipolar disorder
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: Bipolar disorder
Age: 37
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case6
Clinical Profile:
Deficits in coordination and motor skills, language impairment, irritability, response to pain
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 1 yr, 9 mo
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case7
Clinical Profile:
Deficits in coordination and motor skills, language impairment
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: Neurocognitive deficits
Age: 1 yr, 10 mo
Gender: F
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case8
Clinical Profile:
Deficits in coordination and motor skills, language impairment, anxiety, self-injurious behaviors, pica, short attention span
Cognitive Profile:
Intellectual impairment
Moreno-De-Luca D , et al. (2010)Primary Diagnosis: ASD
Age: 10
Gender: M
Primary Disorder Inheritence: -
Family Profile: NA
CNV Start: 698732
CNV End: 2082817
CNV Size: 1384086
Validation Description: FISH, qPCR
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: NA
Genome Build: GRCh38
Gene Content: -
moreno-de-luca_10_ASD_discovery_cases-case9
Clinical Profile:
Deficits in coordination and motor skills, anxiety, mood changes
Cognitive Profile:
Intellectual impairment