2p13.2CNV Type: Deletion-Duplication
Largest CNV size: 78294 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
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
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
141
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
60672
0
2
2
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
131068
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
30787
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
70165
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
98125
0
1
1
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
49818
1
0
1
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
78294
7
4
11
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
58171
0
1
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
58171
0
1
1
yin_16_ASD_discovery_cases
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.
335
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).
Mean, 9.39 4.04 yrs.
89.3% Male
31306
1
0
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
65473
0
2
2
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
75451
4
3
7
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
31306
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
brandler_18_ASD_replication_cases-case2-1112-003
N/A
M
ASD
Case from MSSNG cohort
71334162
71334302
141
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16057_1571012001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73619897
73680569
60673
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5340_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
73629875
73680569
50695
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002055
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
72861062
72992130
131069
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11397.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
73058527
73089315
30789
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11397.p1
NA
M
ASD
NA
NA
73057607
73127772
70166
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
N/A
M
ASD and developmental delay
Autism/autistic behavior, developmental delay
72817162
72915286
98125
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1187-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
73629875
73679692
49818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11233.p1
6.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
73619897
73680569
60673
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11247.p1
5.8
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
73632057
73689545
57489
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11397.p1
11.2
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 128; verbal IQ, 120
73109679
73125477
15799
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11483.p1
9.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
73629875
73680569
50695
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12070.p1
14.4
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
73629875
73680569
50695
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12091.p1
4.4
F
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 100; verbal IQ, 94
73632057
73689545
57489
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12211.p1
6.2
F
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
73629875
73680569
50695
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12336.p1
4.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 132; verbal IQ, 104
73704844
73783138
78295
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12404.p1
5.1
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
73629875
73680569
50695
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
73651225
73695348
44124
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
73629875
73680569
50695
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
73625892
73684062
58171
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
73625892
73684062
58171
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case62
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
71333535
71364840
31306
GRCh38
Deletion
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-controlB746449_1007844499
N/A
N/A
Control
No previous psychiatric history
73629875
73695348
65474
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900474_900474
N/A
N/A
Control
No previous psychiatric history
73477961
73538311
60351
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11360.s1
8.4
F
Control (matched sibling)
NA
NA
73651225
73695348
44124
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11483.s1
12.7
M
Control (matched sibling)
NA
NA
73619897
73680569
60673
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11966.s1
16.3
M
Control (matched sibling)
NA
NA
73629875
73680569
50695
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
73632057
73689545
57489
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
73651225
73695348
44124
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12924.s1
7.9
F
Control (matched sibling)
NA
NA
73619897
73695348
75452
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
73629875
73680569
50695
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case2-1112-003
No validation step reported
Paternal
ZNF638
engchuan_15_ASD_discovery_cases-case16057_1571012001
Unknown
NAT8,ALMS1P1
engchuan_15_ASD_discovery_cases-case5340_3
Unknown
NAT8,ALMS1P1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002055
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPR,EMX1,SFXN5
krumm_15_ASD_discovery_cases-case11397.p1
Illumina 1M
Paternal
Simplex
Segregated
SFXN5,RAB11FIP5
levy_11_ASD_discovery_cases-11397.p1
Paternal
Simplex
Segregated
SFXN5,RAB11FIP5
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
Unknown
SPR,EXOC6B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1187-0
Not tested by qPCR
Unknown
Unknown
Unknown
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-11233.p1
Paternal
Simplex (quad-proband matched)
Segregated
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-11247.p1
Maternal
Simplex (quad-proband matched)
Segregated
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-11397.p1
Paternal
Simplex (quad-proband matched)
Segregated
RAB11FIP5
sanders_11_ASD_discovery_cases-11483.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-12070.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-12091.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-12211.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-12336.p1
Paternal
Simplex (trio)
NA
TPRKB,DUSP11
sanders_11_ASD_discovery_cases-12404.p1
Maternal
Simplex (trio)
NA
NAT8,ALMS1P1
sanders_11_ASD_discovery_cases-12757.p1
Maternal
Simplex (trio)
NA
ALMS1P1
sanders_11_ASD_discovery_cases-12956.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NAT8,ALMS1P1
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
NAT8,ALMS1P1
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
NAT8,ALMS1P1
yin_16_ASD_discovery_cases-case62
Unknown
Unknown
Unknown
ZNF638
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB746449_1007844499
Unknown
NAT8,ALMS1P1
engchuan_15_ASD_discovery_controls-controlHABC_900474_900474
Unknown
ALMS1
sanders_11_ASD_discovery_controls-11360.s1
Maternal
Simplex (quad)
NA
ALMS1P1
sanders_11_ASD_discovery_controls-11483.s1
Paternal
Simplex (quad)
NA
NAT8,ALMS1P1
sanders_11_ASD_discovery_controls-11966.s1
Maternal
Simplex (quad)
NA
NAT8,ALMS1P1
sanders_11_ASD_discovery_controls-12091.s1
Paternal
Simplex (quad)
NA
NAT8,ALMS1P1
sanders_11_ASD_discovery_controls-12650.s1
Paternal
Simplex (quad)
NA
ALMS1P1
sanders_11_ASD_discovery_controls-12924.s1
Maternal
Simplex (quad)
NA
NAT8,ALMS1P1
sanders_11_ASD_discovery_controls-12956.s1
Paternal
Simplex (quad)
NA
NAT8,ALMS1P1
No Animal Model Data Available