16p12.3CNV Type: Deletion-Duplication
Largest CNV size: 1730564 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
1256857
0
1
1
celestino-soper_11_ASD_discovery_cases
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.
99
ASD
87.88% Male
2039
1
0
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
98738
0
1
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
21713
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
546482
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
314114
1
0
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
23040
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
74989
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
600698
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
249356
2
1
3
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
537218
1
1
2
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
526488
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
3
3
6
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
1730564
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
85969
3
1
4
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
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
N/A
N/A
242068
1
1
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
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)
Mean, 9.1 yrs.
86.1% Male
440689
1
11
12
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
564000
0
2
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
545311
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
508100
1
6
7
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
20674
1
1
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD 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)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
60301
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
240405
2
1
3
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
55660
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
89889
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
9
5
14
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
85969
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
1468800
1
5
6
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
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)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case33
2 yrs.
M
Motor delay and macrocephaly
Birth/neonatal history: prenatal period marked by macrocephaly; birth weight 90th %ile, length 90th %ile, OFC > 97th %ile; neonatal hypotonia. Developmental milestones: motor delay. Brain imaging: delayed myelination. Visual evaluation: nystagmus.
16713139
17969995
1256857
GRCh38
Duplication
No
celestino-soper_11_ASD_discovery_cases-11418
NA
M
ASD
NA
NA
18792479
18794518
2040
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case2
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2. Case also presented with developmental regression.
19092263
19191000
98738
GRCh38
Duplication
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
19934316
19956028
21713
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5298_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
18151808
18780825
629018
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU0938301
Autism
17758086
18072199
314114
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case514-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
17846809
17869849
23041
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case19D0779
2 yrs. 4 mos.
M
Developmental delay
19971610
20046598
74989
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004323
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18658344
19259042
600699
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12009.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
20326337
20399300
72964
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13307.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17108694
17358050
249357
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13602.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
21019623
21054534
34912
GRCh38
Deletion
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
19934328
19956040
21713
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
15 yrs.
M
ASD and ID
Diagnosis of ASD (pervasive developmental disorder/PDD) at age of 4 years by child psychologist on basis of behavioral assessments. Birth/neonatal history: uncomplicated pregnancy; natural delivery. Developmental milestones: crawling at 7 months, walking at 15 months; developmental delay noticed by parents at age two, two months after serious encephalitic illness that required hospitalization; speech and language delay (did not talk until approximately 4 years of age). Behavioral/psychiatric evaluation: continued behavioral issues including anxiety, OCD, tics, and impulsive, sometimes aggressive behaviors; frequently talks to himself, trouble concentrating and sitting still. Epilepsy/seizures: cyclical seizures began at time of encephalitic illness and recurred until age of 6 years; subsequently seizure-free without anti-convulsant treatment. Other features: clinical metabolic testing for molybdenum cofactor (MoCo) deficiency performed (negative results) after detection of de novo 14q23.3/GPHN deletion. Dysmorphic features: N/A. Family history: N/A.
Intellectual disability
18148727
18768479
619753
GRCh38
Duplication
No
li_18_ASD_discovery_cases-case4701
N/A
M
ASD
Diagnosis of ASD made according to DSM-IV
18168042
18777065
609024
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient179
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient180
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient181
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient182
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient183
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient184
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
pinto_10_ASD_discovery_cases-case5437_3
NA
M
Autism
Language delay, diffuse pontine glioma
Average IQ
16538314
18268877
1730564
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case04HI3189A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1282302; NDAR ID NDAR_INVAR158VXX)
20460113
20483179
23067
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case04HI3189A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1282302; NDAR ID NDAR_INVAR158VXX)
20540652
20564847
24196
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0075B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU026803; NDAR ID NDAR_INVXB588TAR)
20915554
20948639
33086
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0266B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017504; NDAR ID NDAR_INVWK082CR2)
20469510
20555478
85969
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1028-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
18795989
19038056
242068
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1221-0
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: unknown. Seizures: unknown.
Developmental delay: unknown. Intellectual disability: unknown.
19159095
19190065
30971
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
18205077
18684618
479542
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
18151808
18190190
38383
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
18162067
18173653
11587
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11641.p1
8.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 82
18216662
18739886
523225
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11963.p1
6.1
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
18074566
18152350
77785
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
20327809
20409610
81802
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
18242234
18260866
18633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
18260366
18267519
7154
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12321.p1
11.2
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
18242234
18260866
18633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12351.p1
13.6
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 68; verbal IQ, 37
19014228
19027388
13161
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
20535224
20556780
21557
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13085.p1
14.8
M
ASD
NA
Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
18242234
18274249
32016
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseSAI33
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
18142239
18685424
543186
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseSAI33
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
16199683
16763674
563992
GRCh38
Duplication
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
18148727
18776572
627846
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036020642_
N/A
N/A
Control
No previous psychiatric history
16871248
17002619
131372
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
N/A
N/A
Control
No previous psychiatric history
17271248
17344077
72830
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
N/A
N/A
Control
No previous psychiatric history
18190190
18780825
590636
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
N/A
N/A
Control
No previous psychiatric history
20435638
20692491
256854
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB322144_1007854009
N/A
N/A
Control
No previous psychiatric history
18971363
19011126
39764
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB525694_1007854064
N/A
N/A
Control
No previous psychiatric history
18937444
19070124
132681
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901248_901248
N/A
N/A
Control
No previous psychiatric history
19582729
19664122
81394
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1032
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
20547076
20565585
18510
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1032
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
20478724
20499397
20674
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control13593.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13593. SRS score N/A.
19591789
19652090
60302
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control13307.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17117645
17358050
240406
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13593.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
19591789
19652090
60302
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13602.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
21019623
21058196
38574
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-controlPN400249
N/A
M
Control
Non-autism control
18783097
18838756
55660
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11143.s1
NA
F
Control
NA
NA
19697565
19787453
89889
GRCh38
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control21
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control22
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control23
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control24
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control25
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control26
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control27
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control28
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control29
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control30
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control31
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control32
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control33
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control34
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
poultney_13_ASD_discovery_controls-control05C40631
N/A
F
Control
NIMH Control (NIMH ID 80004)
20469510
20555478
85969
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11350.s1
6.1
M
Control (matched sibling)
NA
NA
18130963
18768514
637552
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11366.s1
10.8
M
Control (matched sibling)
NA
NA
18601126
18739886
138761
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
18233251
18267519
34269
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12020.s1
13.8
M
Control (matched sibling)
NA
NA
16764451
18233251
1468801
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12343.s1
8
F
Control (matched sibling)
NA
NA
18242234
18260866
18633
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12351.s1
15.3
F
Control (matched sibling)
NA
NA
19014228
19027388
13161
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case33
Unknown
Unknown
RPL7P47,XYLT1
celestino-soper_11_ASD_discovery_cases-11418
Unknown
Simplex
NA
ARL6IP1
chehbani_22_ASD_discovery_cases-case2
Unknown
Simplex
SYT17,ITPRIPL2
chung_11_ASD_discovery_cases-proband
Paternal
Simplex
NA
engchuan_15_ASD_discovery_cases-case5298_3
Unknown
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
gai_11_ASD_discovery_cases-AU0938301
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case514-3
Unknown
Unknown
Unknown
han_22_ASD/DD/ID_discovery_cases-case19D0779
Unknown
GPR139
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004323
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS15A,RNU6-1340P,ARL6IP1,COQ7,ITPRIPL2,TMC7,SYT17,SMG1
krumm_15_ASD_discovery_cases-case12009.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
UMOD,PDILT,GP2
krumm_15_ASD_discovery_cases-case13307.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
XYLT1
krumm_15_ASD_discovery_cases-case13602.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
DNAH3
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband3
Unknown
Simplex
Unknown
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
li_18_ASD_discovery_cases-case4701
De novo
Simplex
Possibly segregated
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient179
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient180
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient181
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient182
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient183
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient184
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG1
pinto_10_ASD_discovery_cases-case5437_3
qPCR, Agilent 1M
De novo
Multiplex (MZ twin with ASD)
Not segregated
XYLT1
poultney_13_ASD_discovery_cases-case04HI3189A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ACSM2A
poultney_13_ASD_discovery_cases-case04HI3189A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ACSM2B
poultney_13_ASD_discovery_cases-case98HI0075B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
LYRM1,DNAH3
poultney_13_ASD_discovery_cases-case98HI0266B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ACSM2A,ACSM2B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1028-0
qPCR
De novo
Unknown
Unknown
RNU6-1340P,ARL6IP1,TMC7,SMG1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1221-0
Not tested by qPCR
Unknown
Unknown
Unknown
SYT17
sanders_11_ASD_discovery_cases-11049.p1
Unknown
Simplex (quad-proband matched)
Segregated
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
sanders_11_ASD_discovery_cases-11429.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11590.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11641.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
sanders_11_ASD_discovery_cases-11963.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
UMOD,PDILT,ACSM5
sanders_11_ASD_discovery_cases-12175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12321.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12351.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TMC7
sanders_11_ASD_discovery_cases-12652.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ACSM2B
sanders_11_ASD_discovery_cases-13085.p1
Maternal
Simplex (trio)
NA
soueid_16_ASD_discovery_cases-caseSAI33
Paternal
Simplex
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
soueid_16_ASD_discovery_cases-caseSAI33
Paternal
Simplex
MIR3179-2,MIR3670-2,MIR3180-2,MIR6511A2,MIR6770-2,MIR6511A3,ABCC6,PKD1P1,NOMO3,NPIPA7
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020642_
Unknown
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
Unknown
XYLT1
engchuan_15_ASD_discovery_controls-controlB256025_1007875987
Unknown
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
Unknown
ACSM5,ACSM2A,ACSM2B,ACSM5P1,ACSM1,ACSM3
engchuan_15_ASD_discovery_controls-controlB322144_1007854009
Unknown
TMC7
engchuan_15_ASD_discovery_controls-controlB525694_1007854064
Unknown
RNU6-1340P,COQ7,TMC7
engchuan_15_ASD_discovery_controls-controlHABC_901248_901248
Unknown
VPS35L
kanduri_15_ASD_discovery_controls-control_split1032
Unknown
ACSM2B
kanduri_15_ASD_discovery_controls-control_split1032
Unknown
ACSM2A
krumm_13_ASD_discovery_controls-control13593.s1
Paternal
Simplex
VPS35L
krumm_15_ASD_discovery_controls-control13307.s1
1M-Duov3
Maternal
XYLT1
krumm_15_ASD_discovery_controls-control13593.s1
1M-Duov3
Paternal
VPS35L
krumm_15_ASD_discovery_controls-control13602.s1
Omni2.5-4v1
Paternal
DNAH3
leblond_19_ASD_discovery_controls-controlPN400249
Unknown
RPS15A,ARL6IP1,SMG1
levy_11_ASD_discovery_controls-11143.s1
Maternal
Simplex
NA
KNOP1,VPS35L,IQCK
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control21
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control22
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control23
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control24
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control25
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control26
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control27
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control28
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control29
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control30
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control31
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control32
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control33
Unknown
Unknown
Minimum CNV gene content: SMG1
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control34
Unknown
Unknown
Minimum CNV gene content: SMG1
poultney_13_ASD_discovery_controls-control05C40631
Unknown
ACSM2A,ACSM2B
sanders_11_ASD_discovery_controls-11350.s1
Unknown
Simplex (quad)
NA
MIR6511A4,MIR6770-3,MIR3180-3,MIR3670-3,MIR3179-3,MIR3670-4,MIR3179-4,NPIPA8,PKD1P5,ABCC6P1,NOMO2
sanders_11_ASD_discovery_controls-11366.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11962.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12020.s1
Maternal
Simplex (quad)
NA
RPL7P47,XYLT1
sanders_11_ASD_discovery_controls-12343.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12351.s1
Paternal
Simplex (quad)
NA
TMC7
No Animal Model Data Available