8p23.3-p23.2CNV Type: Duplication
Largest CNV size: 391226 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
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-Duplication
Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epile...
Deletion
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Duplication
A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder.
Duplication
Isolated chromosome 8p23.2pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cabras_12_ASD/MR/EP_discovery_cases
Patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism, and/or epilepsy
10
ASD, mental retardation (MR), and/or epilepsy (EP)
NA
NA
4660000
1
0
1
catusi_21_ASD/DD/ID/EP_discovery_cases
Seven new patients with interstitial microdeletions included in the 8p23.2-pter region (6 from the Cytogenetics/Cytogenomics working group of the Italian Society of Human Genetics (SIGU), 1 from DECIPHER)
7
Six individuals presented with developmental delay and/or intellectual disability; additional clinical features included three individuals presenting with autism spectrum disorder, two with epilepsy, and one with ADHD.
Range, 2-38 yrs.
85.71% Male
4638474
3
0
3
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
279487
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
348761
0
1
1
gorker_17_PHMDS_discovery_cases
Only child of parents with no history of mental disorder or genetic illness who had originally been diagnosed with ASD
1
Case diagnosed with Phelan-McDermid syndrome (PHMDS) following clinical examination and detection of a de novo 22q13.33 deletion; case presented with mild intellectual disability, behavioral abnormalities (irritability, aggression), and dysmorphic features, but no autistic features
9 years
Female
5057056
0
1
1
guo_17_ASD_discovery_cases
ASD subjects (with 343 trios) screened for rare, large (>1 Mb) CNVs
546
Diagnosis of ASD based on DSM-IV-TR criteria
Mean, 5.065 years
N/A
1064431
0
1
1
hao_21_DD/ID_discovery_cases
Proband from a four-generation Chinese pedigree who was one of ten family members affected with developmental delay/intellectual disability, all of whom that were tested carried a 4p16.3-p15.32 microduplication a the 8p23.3-p23.2 microdeletion.
1
Proband presented with developmental delay and intellectual disability, as did all affected family members in this pedigree.
4 yrs.
Male
2397538
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
4593078
5
1
6
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)
1354884
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
391226
0
1
1
shi_17_ASD/DD/ID_discovery_cases
First child of healthy, unrelated patients with no personal or family history of DD/ID, congenital malformations, or psychiatric disorders presenting with a de novo 8p23.3-p23.2 deletion
1
The case was diagnosed with ASD at the age of 3 years 11 months by qualified child psychiatrists based on CARS and ABC; IQ was measured by the Wechsler Young Children Scale of Intelligence (C-WYCSI) at the age of 4 years 4 months.
5 years
Male
6000000
1
0
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
4204502
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
0
0
0
0
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
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)
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.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cabras_12_ASD/MR/EP_discovery_cases
European
aCGH
BACs aCGH (Cytochips Bluegnome)
Bluefuse Cytochip software
FISH
catusi_21_ASD/DD/ID/EP_discovery_cases
Italy
aCGH
Bluegnome 4x180K CytoChip Oligo ISCA, Agilent SurePrint G3 4x180K, Agilent SurePrint G3 Oligo ISCA v2.0 4x180K, Agilent SurePrint G3 8x60K
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gorker_17_PHMDS_discovery_cases
Turkey
aCGH
Agilent SurePrint G3 Human 8x60K
Agilent Feature Extraction v.12.0.1.1, Cytogenomics v.2.9.2.4
FISH
guo_17_ASD_discovery_cases
Chinese Han
Solid phase hybridization
Illumina 370K or 660K BeadChip
PennCNV
qPCR
hao_21_DD/ID_discovery_cases
China
Solid phase hybridization
Illumina Infinium Global Screening Array
cnvPartition (v.1.2.1 to v.3.1.6)
Illumina KaryoStudio
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
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
shi_17_ASD/DD/ID_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS v.3.0
FISH
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cabras_12_ASD/MR/EP_discovery_cases-case1
9 yrs.
M
Autism and mental retardation
Autism, epilepsy, dysmorphic features
Mental retardation
1846772
5459277
4660000
Unknown
Deletion
Yes
catusi_21_ASD/DD/ID/EP_discovery_cases-case2
4 yrs.
M
ASD and developmental delay
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: motor instability, balance/coordination problems, limb hypotonia. Behavioral/psychiatric evaluation: autism spectrum disorder, hyperkinetic behavior, irritability. Additional medical history: xerosis cutis, skin anomalies, hepatomegaly, cerebral parenchymal anomalies.
241530
2269687
2028158
GRCh38
Deletion
No
catusi_21_ASD/DD/ID/EP_discovery_cases-case3
16 yrs.
M
Intellectual disability
Motor and musculoskeletal evaluation: shortened 4th toe of the left foot, bilateral broad first toe, finger hyperlaxity. Additional medical history: eutrophic skin. Dysmorphic features: bitemporal narrowing, hypotelorism, prognathism, premature graying of hair. Growth parameters: short stature, microcephaly. Karyotype: mosaic karyotype of 45,XY,-8[8]/46,XY,r(8)(p23.2q24.3).
Mild intellectual disability
271611
4910084
4638474
GRCh38
Deletion
No
catusi_21_ASD/DD/ID/EP_discovery_cases-case5
13 yrs.
M
ASD and developmental delay
Birth/neonatal history: perinatal distress. Developmental milestones: mild developmental delay at 3 years; language and speech delay. Motor and musculoskeletal evaluation: bilateral clinodactyly of the fifth finger, flat feet. Behavioral/psychiatric evaluation: autism spectrum disorder, hyperactivity, aggressive behavior, impulsivity, stereotypic behavior. Additional medical history: jaundice, frequent respiratory infections. Dysmorphic features: low-set ears, narrow palepbral fissures, thin upper lip vermillion. Family history: father presented with learning disability and stuttering.
IQ of 91 at 13 years
1783288
3988766
2205479
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU010904
Autism
1942690
2291450
348761
Unknown
Duplication
No
gorker_17_PHMDS_discovery_cases-case1
9 yrs.
F
Phelan-McDermid syndrome (PHMDS)
Birth/neonatal history: born by spontaneous delivery; birth weight of 2850 g, birth length of 50 cm; neonatal hypotonia. Developmental milestones: delayed speech and language development; sat up at 10 monhts, walked at 16 months. Language and communication evaluation: speech problems. Behavioral/psychiatric evaluation: case had previously been diagnosed with ASD, but at present no autistic findings; head banging behavior betwen 7 months and 1 year; irritability and aggressive behavior (treated with risperidone). Dysmorphic features: rounded face, pointed chin. Family history: only child; no history of mental disorder or genetic illness in her parents.
Mild intellectual disability; intelligence test could not be performed due to speech problems
241531
5391064
5149534
GRCh38
Duplication
Yes
guo_17_ASD_discovery_cases-caseM16201
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV-TR criteria; no other clinical information available
262364
809178
546815
GRCh38
Duplication
Yes
hao_21_DD/ID_discovery_cases-caseIV-14
4 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: premature birth (36 weeks gestation); birth weight 2.2 kg (1st %ile), birth length 47 cm (5th %ile), birth head circumference 32 cm (3rd %ile); incubated for about one mouth due to premature birth and low birth weight. Developmental milestones: developmental delay; delayed ability to sit (10 months), delayed ability to walk (20 months), speech delay. Language and communication evaluation: can only say three words, which are pronounced through mouth and nasal cavity; difficulties in communicating with and understanding him. Motor and musculoskeletal evaluation: slight tiptoeing, imbalance resulting in frequent falls. Behavioral/psychiatric evaluation: impulsivity and aggressive behavior. Brain imaging: normal brain MRI. Dysmorphic features: none reported. Growth parameters: height 110 cm (85th %ile), normal physical development. Karyotype: [46,XY,der(8)t(4;8)(p15.2;p23.1)mat]. Family history: born to healthy non-consanguineous parents; this proband is one of 10 affected individuals with developmental delay/intellectual disability in a four-generation Chinese pedigree (all of whom that were tested also carried the 4p16.3-p15.32 microduplication and the 8p23.3-p23.2 microdeletion).
Intellectual disability (IQ 55) with a Age Equivalent of 27.5 months at 4 years 2 months of age; Social Living Ability of Infant-Junior Middle School Students total score of 22 (standard score 7), suggesting medium problem in social living ability.
83141
2480678
2397538
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001684
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
1891352
3929104
2037753
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002128
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
219853
3814398
3594546
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002323
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2475295
3391665
916371
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003906
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
3701826
3460297
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004145
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
4929678
4688149
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004386
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
4388060
4146531
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI1083A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU060303; NDAR ID NDAR_INVFG744LPG)
1697147
3142674
1445528
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11309.p1
16.1
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 34; verbal IQ, 26
376352
809178
432827
GRCh38
Duplication
No
shi_17_ASD/DD/ID_discovery_cases-case1
5 yrs.
M
ASD and developmental delay/intellectual disability
Case diagnosed with ASD at the age of 3 years 11 months (based on CARS and ABC). Birth/neonatal history: born at term via natural delivery; birth weight of 2.5 kg (<3rd %ile), length of 49 cm (<25th %ile), and head circumference of 29 cm ( 3 SD); progressed physiologically during neonatal period. Developmental milestones: sat alone at 7 months, crawled at 10 months, walked at 13 months, first words at 16 months; growth delay, psychomotor delay, and poor language/motor skills noted during preschool. Language and communication evaluation: able to understand simple and blended verbal orders, difficulty in understanding complex verbal orders. Motor and musculoskeletal evaluation: poor balance, poor coordination. Behavioral/psychiatric evaluation: case would sometimes talk to himself and had deficiencies in interactions with others, would not hold a direct gaze, and often performed certain stereotyped or repetitive behaviors, attention deficits, impulsivity, unstable emotion, and hyperactivity were also observed. EEG: no anomalies detected. Brain imaging: no anomalies detected on brain MRI. Dysmorphic features: low-set ears, bilateral prominence of the antitragus, epicanthus, long philtrum. Growth parameters: case presented with short stature and mild microcephaly; weight of 15 kg (<3rd %ile), height of 104 cm (<3rd %ile), and head circumference of 47.6 cm ( 2 SD). Family history: first child of healthy, unrelated patients with no personal or family history of DD/ID, congenital malformations, or psychiatric disorders.
Case's IQ was measured by Wechsler Young Children Scale of Intelligence (C-WYCSI) at the age of 4 years 4 months; psychomotor development was slightly delayed, and case presented with intellectual disability (IQ 50, verbal IQ 49, performance IQ 60).
208048
6146683
5938636
GRCh38
Deletion
Yes
streata_22_ASD/DD/ID_discovery_cases-case328
NA
M
Developmental delay and intellectual disability
Global developmental delay, speech and/or language delay or impairment, facial dysmorphism.
Mild/moderate intellectual disability
111748
4316249
4204502
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cabras_12_ASD/MR/EP_discovery_cases-case1
FISH
De novo
Unknown
Possibly segregated
ARHGEF10, KBTBD11, MYOM2, CSMD1
catusi_21_ASD/DD/ID/EP_discovery_cases-case2
Maternal
MIR3674,MIR596,MIR7160,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2
catusi_21_ASD/DD/ID/EP_discovery_cases-case3
De novo
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,FAM87A,FBXO25,CLN8,KBTBD11,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
catusi_21_ASD/DD/ID/EP_discovery_cases-case5
Paternal
MIR3674,MIR596,MIR7160,RNA5SP251,CLN8,KBTBD11,KBTBD11-OT1,ARHGEF10,MYOM2,CSMD1
gai_11_ASD_replication_cases-AU010904
Inherited
MYOM2
gorker_17_PHMDS_discovery_cases-case1
FISH
De novo
Simplex
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
guo_17_ASD_discovery_cases-caseM16201
qPCR
Unknown
hao_21_DD/ID_discovery_cases-caseIV-14
Inherited
Multi-generational
Segregated
CLN8,TDRP,ZNF596,FAM87A,ERICH1,OR4F21,RPL23AP53,MIR596,MIR3674,DLGAP2-AS1,MIR7160,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001684
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR7160,RNA5SP251,KBTBD11,KBTBD11-OT1,ARHGEF10,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002128
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002323
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003906
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004145
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004386
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
poultney_13_ASD_discovery_cases-case99HI1083A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIR3674,MIR596,MIR7160,CLN8,KBTBD11,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
sanders_11_ASD_discovery_cases-11309.p1
Maternal
Simplex (quad-proband matched)
Segregated
shi_17_ASD/DD/ID_discovery_cases-case1
FISH
De novo
Simplex
Segregated
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,DLGAP2,MYOM2,CSMD1
streata_22_ASD/DD/ID_discovery_cases-case328
CMA, karyotyping, and/or MLPA
De novo
CLN8,CSMD1,ERICH1,TDRP,ZNF596,FAM87A,OR4F21,RPL23AP53,MIR596,MIR3674,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR7160,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
Controls
No Control Data Available
No Animal Model Data Available