8p23.3-p23.1CNV Type: Deletion
Largest CNV size: 6822860 bp
Statistics Box:
Number of Reports: 30
Number of Reports: 30
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
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.
Deletion
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Deletion
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Deletion
Comorbidities associated with genetic abnormalities in children with intellectual disability
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean
Deletion
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
Deletion
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
6917411
1
0
1
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
6841066
1
0
1
chan_22_ASD_discovery_cases
ASD probands residing in the Canadian province of Newfoundland and Labrador, recruited from one of three developmental team assessment clinics between 2010 and 2018.
325
Cases met DSM-IV or DSM-5 criteria for autism spectrum disorder (ASD); all diagnoses were confirmed by ADOS assessment.
Mean age of diagnosis, 4.8 yrs.
83.38% Male
6594078
1
0
1
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
8076866
2
1
3
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
6933545
1
0
1
chen_21_ASD/DD/ID_discovery_cases
Consecutive patients enrolled at National Cheng Kung University Hospital (Tainan, Taiwan) from Feb 2018 to Dec 2019
61
Cases presented with moderate or severe developmental delay/intellectual disability (DD/ID); autism spectrum disorder (ASD) was diagnosed in 15 cases (24.6%) based on DSM-V criteria.
Range, 3-18 yrs. (median, 6 yrs.)
60.7% Male
11124602
1
0
1
chen_22_DD/ID_discovery_cases
Patients recruited at the Children's Hospital of Chongqing Medical University, from September 2016 to April 2020.
69
Patients presented with developmental delay/intellectual disability (DD/ID), with or without multiple congenital anomalies (MCA).
Average age at diagnosis, 19 mos.
50.725% Male
12348038
1
0
1
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
9979000
1
0
1
fisch_11_ASD_discovery_cases
Four cases initially diagnosed cytogenetically with chromosome 8p inverted duplication deletion [invdupdel(8p23)]; blood from all 4 cases examined at M.I.N.D. Institute (Univ. of California, Davis)
4
3 cases with diagnosis of autism, 1 case with diagnosis of ADHD. Diagnosis on autism based on CARS. Attention/activity deficits (ADHD or ADD) assessed using CPRS-R. Cognitive abilities assessed using SBFE, adaptive behavior skills assessed with VABS. Emotionality & temperament assessed with CBCL.
Range, 3-15 yrs.
50% Male
6822860
3
0
3
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
6747224
1
0
1
guo_19_DD/ID_discovery_cases
Patients hospitalized at the Department of Pediatric Rehabilitation Medicine, Zhengzhou Children's Hospital, between April 2017 and March 2019 showing clinical signs of neurodevelopmental disorders
54
Cases presented with one or more neurodevelopmental disorders, with global developmental delay and intellectual disability being among the most frequently observed phenotypes in this cohort.
Median age, 15 (8-26) months
61.1% Male
6800000
1
0
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
8663881
3
0
3
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
6091993
0
1
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
11880414
14
4
18
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
6723324
1
0
1
lai_24_DD/ID_discovery_cases
Pediatric patients assessed at the Clinical Genetics Laboratory of the Ganzhou Maternal and Child Health Hospital who were recruited between January 2021 and December 2023.
144
Clinical manifestations observed in this cohort included global developmental delay (HP:0001263; n=46, 31.94%), intellectual disability (HP:0001249; n=44, 30.56%), seizures (HP:0001250, n = 24, 16.67%), and autistic behavior (HP:0000729; n=19, 13.19%).
Median age 4yrs. (range 0-17 yrs.)
59.03% Male
11687389
1
0
1
levchenko_22_DD/ID_discovery_cases
Individuals with non-specific intellectual developmental disorder from the Research Centre for Medical Genetics consulted from 2017 to 2020.
198
Cases presented with non-specific intellectual developmental delay (DD/ID).
Range, 6 mos.-65 yrs.
63.63% Male
6933651
1
0
1
mahjani_21_ASD_discovery_cases
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.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
6934911
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
12050000
2
1
3
okur_21_ASD/EP/NDD_discovery_cases
Individuals with chromosome 8p rearrangements of invdupdel(8p), del(8p), and dup(8p) (selected from an original cohort of 97 individuals).
89
All patients presented with neurodevelopmental features (NDD); a subset of patients presented with autism spectrum disorder and/or epilepsy/seizures.
Range, 0.8-33.9 yrs.
47.19% Male
11833425
60
0
60
pinto_14_ASD_discovery_cases
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)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
6839842
1
0
1
quintela_17_DD/ID_discovery_cases
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
573
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]
Range, 3 months-18 years
60.38% Male
7384143
1
0
1
sagar_17_ASD/ADHD/OCD_discovery_cases
Patient with autism, OCD, ADHD, and an overgrowth syndrome with an unbalanced translocation [der(8)t(4;8)p(16;23)] identified during a larger Autism Genome Project CNV study (Pinto et al., 2014)
1
Case diagnosed with ADHD and learning disability at age fo 3 years, ASD at age of 5 years (clinical diagnosis of autism at age of 12 years based on ADI-R and ADOS classifications), and OCD at 18 years.
26 yrs.
Male
6994825
1
0
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
7625080
5
0
5
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
8687000
2
0
2
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
6432000
0
1
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
10625604
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
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)
Range, 1 month-38 years (median age of 4 years)
6700000
1
0
1
verberne_22_ASD/DD/ID_discovery_cases
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.
331
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.
Range, 0-18.7 yrs. (median age 3.95 yrs.)
NA
6934911
1
0
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
6841172
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
chan_22_ASD_discovery_cases
Canada
WGS
Complete Genomics, Illumina HiSeq2000, Illumina HiSeq X
NA
ERDS v.1.1, CNVnator v.0.3.2
RT-PCR, qPCR, or ddPCR
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
chen_21_ASD/DD/ID_discovery_cases
Taiwan
CMA
CytoOne Array (Phalanx Biotech)
CBS
MATLAB v.R2009a
None
chen_22_DD/ID_discovery_cases
China
WGS
Illumina NovaSeq 6000
NA
Chigene
None
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
fisch_11_ASD_discovery_cases
NA
aCGH
Agilent Human Genome CGH 244A
Feature Extraction Software v9.1, Agilent Genomic Workbench v5.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
guo_19_DD/ID_discovery_cases
China
NGS
Illumina HiSeq 2500
m-HMM
FASTQ v.0.18.1
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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)
lai_24_DD/ID_discovery_cases
China
WES
Illumina NovaSeq 6000
PCR or Sanger
levchenko_22_DD/ID_discovery_cases
Russia
Array SNP
Affymetrix CytoScan HD, Affymetrix CytoScan XON
NA
NA
None
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
okur_21_ASD/EP/NDD_discovery_cases
N/A
CMA
N/A
N/A
N/A
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sagar_17_ASD/ADHD/OCD_discovery_cases
N/A
Solid phase hybridization
Illumina 1M Duo
qPCR, FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
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
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
verberne_22_ASD/DD/ID_discovery_cases
Dutch Caribbean
CMA
NA
NA
NA
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akkus_24_ASD/DD/ID_discovery_cases-case42A
2 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, hypotonia, corpus callosum agenesis, macrocephaly, prominent ears.
Developmental delay/intellectual disability
208048
7125458
6917411
GRCh38
Deletion
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG2552
N/A
N/A
Developmental delay
Developmental delay, microcephaly, agenesis of corpus callosum, asymmetric face, left exotropia, hypertonia, history of poor feeding. Non-consanguineous parents.
Developmental delay
208048
7141592
6933545
GRCh38
Deletion
No
chan_22_ASD_discovery_cases-case3-0460-000
NA
M
ASD
Case diagnosed with autism spectrum disorder (met DSM-IV or DSM-5 criteria and confirmed by ADOS). Language and communication evaluation: no communicative speech at 4 years 4 months. Dysmorphic features: narrow palpebral fissures, large feet with dystrophic great toe nails and brachdactyly of toes, bilateral fifth finger clinodactyly. Growth parameters: macrocephaly (head circumference +2.5 SD), obesity (weight >97th %ile, body mass index >>95th %ile).
Cognitive evaluation at 7 years 6 months failed to obtain IQ scores but did demonstrate a listening comprehension standard score of 40 (<0.1%, 2 year 2 month-old level) and an oral expression standard score of 48 (<0.1%, 2 year 7 month-old level).
377801
6971878
6594078
GRCh38
Deletion
Yes
chaves_19_ASD/DD/ID_discovery_cases-case219
N/A
F
Developmental delay
Short stature, prematurity, intrauterine growth retardation, developmental delay, and facial dysmorphism. Karyotype: 46, XX, add(8)(p23.1).
208048
7083139
6875092
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case372
N/A
M
Developmental delay
Hypotonia, developmental delay, speech and/or language delay or impairment, learning difficulties, DIL and behavioral disorder
Learning difficulties
208048
7080528
6872481
GRCh38
Deletion
No
chaves_19_ASD/DD/ID_discovery_cases-case61
N/A
M
Hyperactivity
DIL, hyperactivity. Family history: four affected siblings.
208048
8284913
8076866
GRCh38
Duplication
No
chaves_24_ASD/DD/ID_discovery_cases-case995
F
Failure to thrive, facial dysmorphism, hydrocephalus, thin corpus callosum, ventricular ectasia. Karyotype: 46,XX,add(8)(?-pter).
208048
7141592
6933545
GRCh38
Deletion
No
chen_21_ASD/DD/ID_discovery_cases-case17
NA
NA
Developmental delay/intellectual disability
Developmental delay/intellectual disability
Developmental delay/intellectual disability
265647
11390248
11124602
GRCh38
Deletion
No
chen_22_DD/ID_discovery_cases-case28
36 mos.
M
Developmental delay and intellectual disability
Gesell scores: 41-31-46-35-39. Clinical profile: motor retardation, speech and language retardation, facial abnormalities, hypospadias, kyphosis, finger bending, and short stature.
Intellectual disability.
169208
12517245
12348038
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD425
6 yrs.
M
ASD
CARS score 31.5 (mild severity)
208049
10279684
10071636
GRCh38
Deletion
No
fisch_11_ASD_discovery_cases-case1
15 yrs.
F
Autism
Diagnosis of mild-to-moderate autism based on CARS score of 35.5 on re-examination (initial CARS core of 27.5 was in non-autistic range). Lack of expressive speech and language. Behavior consistent with DSM-IV diagnosis of ADHD (CPRS-R scores: 99th %ile for hyperactivity, 98th %ile for restlessness and impulsivity). CBCL results: T-score for attention (T=75) clinically significant; all other emotionality and temperament T-scores within normal range. Case often stared at people or into space for long periods. Dysmorphic features: somewhat long face, unusually wide open eyes. Parents showed normal microarray patterns.
SBFE not administered due to lack of expressive speech & language; overall VABS score of <20 indicates much lower than adequate levels of adaptive behavior.
90616
6913476
6822860
Unknown
Deletion
No
fisch_11_ASD_discovery_cases-case2
3 yrs.
M
Autism
Diagnosis of mild autism based on CARS score of 32. Extremely limited speech & language. Lethargic, did not point or gesture, made no eye contact, did not want face to be touched. CBCL scores noted subclinical thought problems (T=67) and significant withdrawal from others (T=74). CPRS-R scores noted signficant anxious/withdrawn behaviors (100th %ile), psychosomatic problems (94th %ile), & emotional lability (95th %ile). Dysmorphic features: large head, prominent forehead. Parents showed normal microarray patterns.
VABS score of 51 (much lower than adequate levels of adaptive behavior)
226252
7068544
6842293
GRCh38
Deletion
No
fisch_11_ASD_discovery_cases-case4
15 yrs.
M
ADHD
CPRS-R scores in 95th %ile for hyperactivity, consistent with a DSM-IV diagnosis of ADHD. CARS score of 21 (not autistic). CBCL noted non-statistically significant thought & social problems. Clear expressive speech & language. Dysmorphic features: none. Parents showed normal microarray patterns.
Mild intellectual deficits (based on test composite on SBFE of 56); lower than adequate levels of adaptive behavior (adaptive behavior composite on VABS of 59)
226252
7068544
6842293
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13700.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
226252
7068544
6842293
GRCh38
Deletion
Yes
guo_19_DD/ID_discovery_cases-case9
9 mos.
F
Global developmental delay and cognitive impairment
Delayed speech and language development, cognitive impairment, global developmental delay, motor deterioration, Babinski sign, myotonia of the lower limb, corpus callosum atrophy, abnormality of body weight
Cognitive impairment
205001
7097479
6892479
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D2217
5 mos. 8 days
F
Developmental delay
208048
8871928
8663881
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D2299
15 mos. 18 days
M
Developmental delay
208048
8871928
8663881
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case19D1091
19 mos. 8 days
M
Developmental delay
Speech delay, hearing problem
208048
7141592
6933545
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case6
2 yrs.
NA
Developmental delay
Developmental delay partially similar to Wolf-Hirschhorm syndrome phenotype
Severe developmental delay
354177
6538649
6184473
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000196
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7895064
7653535
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000728
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000909
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7895064
7653535
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000934
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000935
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001064
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7895064
7653535
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001084
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001096
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001181
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7195723
6954194
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001257
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002024
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
219853
10165486
9945634
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002276
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
219853
7084815
6864963
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002298
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
219853
7084815
6864963
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004207
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004297
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2475295
7895064
5419770
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004423
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
241530
7022841
6781312
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004907
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96310
12021806
11925497
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13700.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
240895
7056697
6815803
GRCh38
Deletion
Yes
lai_24_DD/ID_discovery_cases-case10
8 mos.
M
Developmental delay
Global developmental delay
166076
11853464
11687389
GRCh38
Deletion
Yes
levchenko_22_DD/ID_discovery_cases-caseD1011
NA
M
Developmental delay/intellectual disability
Case presented with non-specific intellectual developmental disorder. Motor and musculoskeletal evaluation: hypotonia, varus feet. Brain imaging: hypoplasia of the cerebellum. Dysmorphic features: narrow forehead, moderately upturned nose, macrotomia, low-set ears, transverse palmar crease.
208048
7141698
6933651
GRCh38
Deletion
No
mahjani_21_ASD_discovery_cases-case235
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
214983
7149893
6934911
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530520
M
Autism and developmental delay
Autism (HP:0000717), global developmental delay (HP:0001263)
1
7410000
7410000
GRCh38
Deletion
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530522
F
Developmental delay
Global developmental delay (HP:0001263), abnormal facial shape (HP:0001999)
210001
12260000
12050000
GRCh38
Duplication
No
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530524
F
Autism and seizures
Autism (HP:0000717), poor speech (HP:0002465), seizure (HP:0001250), abnormal facial shape (HP:0001999)
1
8135000
8135000
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_1
8.3 yrs.
M
ASD
Neonatal history: Floppy infant, Overly sleepy, Hypoglycemia. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Autism. Neurologic profile: Hypotonia, Hypertonia, Regression. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Sleep problems: Unspecified sleep problems. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Inguinal hernia, Pes planus. Genitourinary abnormalities: Cryptorchidism, Structural kidney abnormalities. Growth and Endocrine abnormalities: Obesity/Overweight. Skin abnormalities: Eczema. Dental abnormalities: Small teeth, Dental crowding.
226813
7929186
7702374
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_21
0.8 yrs.
F
NDD
Prenatal history: Unspecified Prenatal history. Neonatal history: Floppy infant, Prematurity, Hypoglycemia. Neurologic profile: Hypotonia, Hypertonia. Cardiac issues: VSD, PS, Arrhythmia. Gastrointestinal abnormalities: Constipation. Growth and Endocrine abnormalities: Obesity/Overweight.
208047
12041471
11833425
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_22
5.7 yrs.
M
ASD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Irritable. Neurobehavioral: Autism, Short attention span/ADD/ADHD/Hyperactivity, Echolalia. Neurologic: Difficulty walking/Wobbly, clumsy gait. Sleep problems: Unspecified sleep problems. Cardiac issues: VSD, ASD, PS. Gastrointestinal abnormalities: Constipation, GERD, Diarrhea. Musculoskeletal abnormalities: Equinovarus/equinovalgus, Hypermobile joints, Pes planus. Genitourinary abnormalities: Hypospadias. Skin abnormalities: Eczema. Dental abnormalities: Widely-spaced teeth. Additional medical history: High pain tolerance.
111748
11865694
11753947
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_23
7.5 yrs.
M
Epilepsy/seizures
Prenatal history: SGA, Other Prenatal history. Neonatal history: Feeding difficulty, Poor suck, Stiff infant. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Hypertonia, Balance issues. Brain imaging abnormality: Unspecified brain imaging abnormality. Seizures: Complex partial. Visual abnormalities: Strabismus, Other visual abnormalities. Gastrointestinal abnormalities: Constipation. Growth and Endocrine abnormalities: Obesity/Overweight. Dental abnormalities: Caries. Additional medical history: High pain tolerance, Asthma.
978897
11422650
10443754
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_24
8.8 yrs.
M
Epilepsy/seizures
Prenatal history: SGA. Neonatal history: Floppy infant. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity, Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait, Microcephaly. Brain imaging abnormality: Unspecified brain imaging abnormality. Seizures: Absence. Gastrointestinal abnormalities: Constipation. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Rashes.
208047
11114066
10906020
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_25
11.5 yrs.
F
NDD
Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Difficulty walking/Wobbly, clumsy gait, Regression. Sleep problems: Sleep difficulty. Cardiac issues: PDA. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: GERD.
208047
10910238
10702192
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_28
27.6 yrs.
F
ASD
Neonatal history: Poor suck, Respiratory distress. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Autism, Anxiety. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Visual abnormalities: Strabismus, Cortical visual impairment. Gastrointestinal abnormalities: Constipation. Growth and Endocrine abnormalities: Obesity/Overweight.
208047
11558303
11350257
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_29
32.1 yrs.
F
NDD
Neonatal history: Floppy infant, Irritable. Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity, Psychiatric/psychosocial issues. Neurologic profile: Hypertonia. Cardiac issues: VSD, ASD, PS, Arrhythmia, Other cardiac issues. Gastrointestinal abnormalities: GERD, Other gastrointestinal abnormalities. Growth and Endocrine abnormalities: Obesity/Overweight. Dental abnormalities: Crooked teeth.
208047
12041471
11833425
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_3
9.5 yrs.
M
ASD and epilepsy/seizures
Prenatal history: Oligo-/Polyhydramnios or Renal issues. Neonatal history: Overly sleepy, Thermoregulation issues. Neurobehavioral profile: Autism, Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypotonia. Seizures: Myoclonic. EEG: Slowing, Epileptiform changes. Gastrointestinal abnormalities: GERD. Genitourinary abnormalities: Hydronephrosis. Dental abnormalities: Early eruption. Additional medical history: High pain tolerance.
211493
6888927
6677435
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_6
22.6 yrs.
M
NDD
Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity. Cardiac issues: PS. Visual abnormalities: Refractive error. Musculoskeletal abnormalities: Vertebral abnormalities, Inguinal hernia, Other musculoskeletal abnormalities.
208047
6913311
6705265
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_7
33.9 yrs.
M
NDD
Neurobehavioral profile: Sensory processing disorder/Sensory issues, Anxiety. Neurologic profile: Coordination problems, Balance issues. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: GERD. Musculoskeletal abnormalities: Scoliosis. Growth and Endocrine abnormalities: Short stature, Obesity/Overweight. Frequent infections: Otitis media. Dental abnormalities: Crooked teeth.
96384
7165968
7069585
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_1
7.1 yrs.
F
NDD
Neonatal history: Poor suck, Respiratory distress. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait, Regression. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly, Cerebral/cerebellar atrophy. Cardiac issues: VSD, ASD. Visual abnormalities: Refractive error, Strabismus, Cortical visual impairment, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Constipation, GERD, Laryngotracheomalacia. Musculoskeletal abnormalities: Scoliosis. Genitourinary abnormalities: Structural kidney abnormalities. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Rashes. Frequent infections: Otitis media, Urinary tract infections. Dental: Delayed eruption, Permanent primary teeth.
93685
7313563
7219879
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_10
12.5 yrs.
M
Epilepsy/seizures
Prenatal history: Single umbilical artery, Oligo-/Polyhydramnios or Renal issues. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy. Neurobehavioral profile: Sensory processing disorder/Sensory issues. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Hydrocephalus/Ventriculomegaly, Cerebral/cerebellar atrophy, Other brain imaging abnormality. Seizures: Absence. EEG: Epileptiform changes. Sleep problems: Sleep difficulty. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Other musculoskeletal abnormalities. Genitourinary abnormalities: Pelvicalyectasis. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Cold hands and feet. Additional medical history: Conductive hearing loss (fluid), Eosinofilic esophagitis.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_11
5 yrs.
F
Epilepsy/seizures
Prenatal history: Pre-eclampsia. Neonatal history: Floppy infant, Feeding difficulty, Irritable. Neurologic profile: Hypotonia, Hypertonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis). Seizures: Absence, Complex partial. EEG: Slowing, Epileptiform changes. Cardiac issues: Other cardiac issues. Visual abnormalities: Refractive error, Other visual abnormalities. Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty, TEF. Musculoskeletal abnormalities: Tethered cord/spina bifida, Rib anomalies. Frequent infections: Otitis media, Lower respiratory infections. Dental: Caries, Delayed eruption.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_12
2.8 yrs.
F
NDD
Prenatal history: SGA, Cardiac finding, Intracranial cyst. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Irritable. Neurologic profile: Hypotonia. Brain imaging abnormality: Intracranial cyst. Cardiac issues: VSD, PDA. Visual abnormalities: Other visual abnormalities. Gastrointestinal abnormalities: Constipation, GERD.
226813
7056554
6829742
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_13
3.3 yrs.
M
NDD
Neonatal history: Feeding difficulty, Overly sleepy. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Musculoskeletal abnormalities: Pectus excavatum/carinatum. Dental abnormalities: Caries.
208047
7186524
6978478
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_14
2.4 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Overly sleepy. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis). Seizures: Absence, Febrile, Tonic-clonic. Sleep problems: Sleep difficulty, Sleep apnea. Cardiac issues: VSD. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Vertebral abnormalities, Kyphosis. Growth and Endocrine abnormalities: failure to thrive/poor weight gain.
226813
7081774
6854962
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_15
6.1 yrs.
F
Epilepsy/seizures
Prenatal history: SGA. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Respiratory distress. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Hypertonia. Seizures: Absence, Febrile. EEG: Epileptiform changes. Cardiac issues: VSD, PFO, PDA. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Vertebral abnormalities, Equinovarus/equinovalgus, Rib anomalies. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media, Upper respiratory infections, Urinary tract infections. Dental abnormalities: Widely-spaced teeth, Overbite.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_16
5.8 yrs.
F
NDD
Prenatal history: Single umbilical artery, SGA. Neonatal history: Overly sleepy, Prematurity. Neurologic profile: Hypotonia, Hypertonia, Microcephaly. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). EEG: Slowing. Sleep problems: Night terrors. Cardiac issues: BAV. Visual abnormalities: Amblyopia. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Scoliosis, Hypermobile joints. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Keratosis pilaris. Dental abnormalities: Overbite.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_17
27.2 yrs.
F
Epilepsy/seizures
Prenatal history: Pre-eclampsia. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Irritable, Hypoglycemia, Thermoregulation issues, Nuchal cord. Neurobehavioral profile: Sensory processing disorder/Sensory issues. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Hydrocephalus/Ventriculomegaly. Seizures: Absence, Atonic. EEG: Other abnormal activity. Sleep problems: Other sleep problems. Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty. Musculoskeletal abnormalities: Scoliosis, Other musculoskeletal abnormalities. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Dermatitis. Frequent infections: Otitis media, Urinary tract infections. Dental abnormalities: Widely-spaced teeth, Overbite, Supernumerary tooth. Additional medical history: Conductive hearing loss (fluid), High pain tolerance, Acquired von Willebrand.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_18
1.12 yrs.
M
NDD
Neonatal history: Floppy infant, Feeding difficulty, Thermoregulation issues. Neurologic: Hypotonia, Macrocephaly. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly. Sleep problems: Sleep apnea. Cardiac issues: PFO, Ascending aorta dilation. Visual abnormalities: Strabismus. Musculoskeletal abnormalities: Tethered cord/spina bifida. Genitourinary abnormalities: Cryptorchidism, VUR, Pelvicalyectasis. Growth and Endocrine abnormalities: Hypo/hyperthyroidism, Low cortisol levels.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_19
3.8 yrs.
M
NDD
Neonatal history: Floppy infant, Overly sleepy. Neurologic profile: Hypotonia, Hypertonia, Macrocephaly. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly, Cerebral/cerebellar atrophy. Cardiac issues: ASD. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Inguinal hernia. Dental abnormalities: Caries.
240821
6877859
6637039
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_2
15.8 yrs.
M
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Respiratory distress, Seizures. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Sleep problems: Sleep apnea. Cardiac issues: VSD. Gastrointestinal abnormalities: Constipation, GERD, Inflammatory bowel disease. Musculoskeletal abnormalities: Scoliosis, Equinovarus/equinovalgus. Genitourinary abnormalities: Cryptorchidism, VUR, Structural kidney abnormalities, Bladder problems. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Frequent infections: Otitis media, Immunodeficiency. Dental abnormalities: Widely-spaced teeth. Additional medical history: Conductive hearing loss (fluid), Eosinofilic esophagitis, Mildly elevated white blood cells.
214983
7331836
7116854
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_20
9.3 yrs.
M
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Stiff infant. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Aggessivity/Tantrums/Impulsivity. Neurologic phenotype: Hypotonia, Hypertonia, Microcephaly. Brain imaging abnormality: abnormality of the corpus callosum (agenesis). Seizures: Absence, Febrile, Tonic-clonic. EEG: Other abnormal activity. Sleep problems: Sleep apnea. Visual abnormalities: Refractive error, Cortical visual impairment. Gastrointestinal abnormalities: GERD, Feeding difficulty, Diarrhea, Inflammatory bowel disease. Musculoskeletal abnormalities: Vertebral abnormalities, Inguinal hernia, Coxa valga/Pelvis/Femur head abnormality, Pectus excavatum/carinatum, Rib anomalies. Genitourinary abnormalities: Cryptorchidism, Hydronephrosis, VUR. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Eczema. Frequent infections: Otitis media, Lower respiratory infections. Dental abnormalities: Caries, Delayed eruption, Supernumerary tooth.
241604
7022824
6781221
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_21
6.5 yrs.
M
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Prematurity, Respiratory distress. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Other brain imaging abnormality. Seizures: Atonic. EEG: Epileptiform changes. Sleep problems: Other sleep problems. Cardiac issues: VSD, ASD, PDA. Visual abnormalities: Cortical visual impairment. Gastrointestinal abnormalities: Constipation, Feeding difficulty, Other gastrointestinal. Musculoskeletal abnormalities: Coxa valga/Pelvis/Femur head abnormality. Genitourinary abnormalities: Hydronephrosis, Bladder problems. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Eczema. Dental abnormalities: Caries, Enamel hypoplasia. Additional medical history: High pain tolerance.
226463
6840373
6613911
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_22
4.6 yrs.
F
Epilepsy/seizures
Prenatal history: SGA, Cardiac finding, Gestational DM. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable, Hypoglycemia, Thermoregulation issues, Polycythemia. Neurobehavioral profile: Sensory processing disorder/Sensory issues. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Seizures: Tonic-clonic, Myoclonic. EEG: Epileptiform changes. Cardiac issues: VSD. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Eczema. Frequent infections: Otitis media, Upper respiratory infections, Urinary tract infections. Dental abnormalities: Widely-spaced teeth, Caries. Additional medical history: Subglottic stenosis.
252132
7062893
6810762
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_23
4.1 yrs.
M
NDD
Prenatal history: SGA. Neonatal history: Feeding difficulty, Poor suck, Overly sleepy, Prematurity. Cardiac issues: PS, Other cardiac issues. Frequent infections: Upper respiratory infections. Dental: Widely-spaced teeth.
208047
7186524
6978478
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_24
2.3 yrs.
F
NDD
Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Frequent infections: Otitis media.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_25
2.7 yrs.
M
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable, Prematurity, Respiratory distress. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Delayed myelination. Seizures: Absence. Sleep problems: Sleep difficulty. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Scoliosis, Coxa valga/Pelvis/Femur head abnormality. Frequent infections: Upper respiratory infections, Lower respiratory infections.
226813
7896061
7669249
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_26
18.2 yrs.
M
NDD
Neonatal history: Floppy infant, Irritable. Neurobehavioral profile: Anxiety. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Cerebral/cerebellar atrophy, Intracranial cyst. EEG: Slowing. Cardiac issues: PDA. Gastrointestinal abnormalities: Constipation, GERD, Intestinal malrotation. Musculoskeletal abnormalities: Inguinal hernia. Genitourinary abnormalities: Cryptorchidism. Skin abnormalities: Dry skin. Frequent infections: Otitis media. Dental abnormalities: Permanent primary teeth.
208047
7186524
6978478
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_27
10.5 yrs.
M
ASD and epilepsy/seizures
Neonatal history: Floppy infant, Poor suck, Hypoglycemia. Neurobehavioral profile: Autism. Neurologic profile: Hypotonia. Brain imaging abnormality: Dandy-Walker malformation, Other brain imaging abnormality. Seizures: Absence. Gastrointestinal abnormalities: Constipation, Feeding difficulty. Musculoskeletal abnormalities: Other musculoskeletal abnormalities. Growth and Endocrine abnormalities: Low cortisol levels. Skin abnormalities: Cold hands and feet.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_28
10.7 yrs.
F
NDD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Cerebral/cerebellar atrophy. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Equinovarus/equinovalgus, Pectus excavatum/carinatum. Dental abnormalities: Widely-spaced teeth, Small teeth.
60000
7492478
7432479
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_29
3.7 yrs.
F
Epilepsy/seizures
Prenatal history: SGA, Oligo-/Polyhydramnios or Renal issues. Neonatal history: Feeding difficulty, Poor suck, Overly sleepy, Irritable, Hypoglycemia, Stiff infant. Neurologic profile: Hypotonia. Seizures: Absence. Gastrointestinal abnormalities: GERD. Musculoskeletal abnormalities: Pes cavus, Other musculoskeletal abnormalities. Skin abnormalities: Dermatitis.
213165
6877859
6664695
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_3
13.2 yrs.
F
Epilepsy/seizures
Prenatal history: Reduced fetal movement. Neonatal history: Feeding difficulty, Polycythemia, Seizures. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis). Seizures: Myoclonic. Visual: Other visual abnormalities. Growth and Endocrine abnormalities: failure to thrive/poor weight gain.
208047
7070489
6862443
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_30
3.2 yrs.
M
Epilepsy/seizures
Prenatal history: Cardiac finding. Neonatal history: Feeding difficulty, Poor suck, Prematurity, Stiff infant. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Other brain imaging abnormality. Seizures: Tonic-clonic. Cardiac issues: ToF. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Intestinal malrotation, Coanal atresia. Musculoskeletal abnormalities: Scoliosis, Vertebral abnormalities, Tethered cord/spina bifida. Genitourinary abnormalities: Cryptorchidism, Hypospadias. Skin: Keratosis pilaris. Additional medical history: Conductive hearing loss (fluid).
159049
7210958
7051910
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_32
2.2 yrs.
F
NDD
Prenatal history: Single umbilical artery. Neonatal history: Floppy infant, Feeding difficulty, Prematurity. Neurologic profile: Hypertonia, Difficulty walking/Wobbly, clumsy gait, Macrocephaly. Brain imaging abnormality: Hydrocephalus/Ventriculomegaly. EEG: Slowing, Epileptiform changes. Cardiac issues: VSD. Visual abnormalities: Strabismus, Other visual abnormalities. Musculoskeletal abnormalities: Tethered cord/spina bifida.
208047
7138333
6930287
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_33
6.5 yrs.
M
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Prematurity. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Other brain imaging abnormality. Seizures: Febrile. EEG: Slowing. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: GERD. Musculoskeletal abnormalities: Inguinal hernia, Equinovarus/equinovalgus.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_34
4.9 yrs.
F
Epilepsy/seizures
Prenatal history: Single umbilical artery, Oligo-/Polyhydramnios or Renal issues, Pre-eclampsia. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Prematurity, Thermoregulation issues. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Seizures: Absence. Sleep problems: Night terrors. Cardiac issues: VSD, PFO. Visual abnormalities: Refractive error, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Constipation, Feeding difficulty, TEF. Skin abnormalities: Rashes. Frequent infections: Otitis media, Upper respiratory infection, Urinary tract infections. Dental abnormalities: Prognathism. Additional medical history: Anemia.
214983
7149893
6934911
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_35
11.8 yrs.
F
Epilepsy/seizures
Prenatal history: Reduced fetal movement. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Torticollis. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia, Hypertonia, Regression. Brain imaging abnormality: Hydrocephalus/Ventriculomegaly. Seizures: Complex partial. EEG: Epileptiform changes. Sleep problems: Other sleep problems. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty. Growth and Endocrine abnormalities: Short stature. Skin abnormalities: Eczema. Frequent infections: Otitis media, Urinary tract infections. Dental abnormalities: Supernumerary tooth.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_36
2.9 yrs.
F
NDD
Prenatal history: Single umbilical artery. Neonatal history: Floppy infant, Hypoglycemia. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Hydrocephalus/Ventriculomegaly, Dandy-Walker malformation. Cardiac issues: VSD. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Scoliosis. Skin abnormalities: Dry skin, Dermatitis.
241529
7054009
6812481
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_37
1.6 yrs.
M
NDD
Neonatal history: Irritable, Hypoglycemia. Neurologic profile: Hypotonia, Hypertonia, Macrocephaly. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Delayed myelination. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation.
241604
7022824
6781221
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_38
4.4 yrs.
F
NDD
Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: Other brain imaging abnormality. Gastrointestinal abnormalities: GERD. Skin abnormalities: Eczema.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_39
5.7 yrs.
M
NDD
Prenatal history: Single umbilical artery, Cardiac finding, Oligo-/Polyhydramnios or Renal issues, Intracranial cyst. Neonatal history: Floppy infant, Poor suck, Overly sleepy. Neurologic profile: Hypotonia, Macrocephaly. Brain imaging abnormality: Hydrocephalus/Ventriculomegaly. Cardiac issues: VSD, PFO, ASD. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD, Diarrhea. Musculoskeletal abnormalities: Scoliosis. Genitourinary abnormalities: Cryptorchidism. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media, Upper respiratory infection. Dental abnormalities: Widely-spaced teeth.
208047
8235544
8027498
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_4
22.4 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Hypoglycemia, Nuchal cord. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly. Seizures: Absence, Febrile. Sleep problems: Sleep apnea. Visual abnormalities: Strabismus, Cortical visual impairment, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Constipation, GERD, Feeding difficulty, absent gallbladder. Musculoskeletal abnormalities: Scoliosis, Hypermobile joints, Kyphosis, Other musculoskeletal abnormalities. Genitourinary abnormalities: Bicornate uterus. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Skin abnormalities: Rashes. Frequent infections: Urinary tract infections, Lower respiratory infections. Dental abnormalities: Widely-spaced teeth, Permanent primary teeth. Additional medical history: High pain tolerance.
208047
7141592
6933546
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_40
5.48 yrs.
F
NDD
Prenatal history: Reduced fetal movement. Neonatal history: Floppy infant, Feeding difficulty, Irritable. EEG: Other abnormal activity. Visual abnormalities: Strabismus. Gastrointestinal abnormalities: Constipation, GERD, Diarrhea.
208047
8235544
8027498
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_41
2.2 yrs.
F
NDD
Neonatal history: Feeding difficulty, Prematurity. Neurologic profile: Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: Intracranial cyst, Other brain imaging abnormality. Cardiac issues: Dextrapositoned heart. Gastrointestinal abnormalities: Constipation. Frequent infections: Upper respiratory infections.
208047
8235647
8027601
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_42
7.6 yrs.
M
ASD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Prematurity. Neurobehavioral profile: Autism. Brain imaging abnormality: Dandy-Walker malformation. Cardiac issues: BAV. Gastrointestinal abnormalities: Feeding difficulty. Growth and Endocrine abnormalities: failure to thrive/poor weight gain.
226813
7081774
6854962
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_43
7.7 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Stiff infant. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Echolalia. Neurologic profile: Hypotonia, Coordination problems. Seizures: Absence, Febrile. Gastrointestinal abnormalities: Constipation.
226813
7477162
7250350
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_44
5.5 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable, Respiratory distress. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity, Sensory processing disorder/Sensory issues. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Seizures: Febrile, Tonic-clonic, Atonic. Sleep problems: Sleep difficulty. Visual abnormalities: Refractive error, Cortical visual impairment. Gastrointestinal abnormalities: Constipation, GERD. Musculoskeletal abnormalities: Hypermobile joints. Genitourinary abnormalities: Prominent clitoris. Skin abnormalities: Cold hands and feet. Frequent infections: Upper respiratory infections. Dental abnormalities: Early eruption.
241559
7311998
7070440
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_45
15.9 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant. Neurobehavioral profile: Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Balance issues. Seizures: Absence. EEG: Slowing, Other abnormal activity. Sleep problems: Other sleep problems. Cardiac issues: ASD, Enlarged heart. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation, GERD, Intestinal malrotation. Musculoskeletal abnormalities: Scoliosis, Pes planus. Genitourinary abnormalities: Hydronephrosis. Skin abnormalities: Eczema. Dental abnormalities: Overbite, Early eruption.
226813
7477162
7250350
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_46
6.64 yrs.
F
Epilepsy/seizures
Prenatal history: Single umbilical artery. Neonatal history: Floppy infant. Neurobehavioral profile: Short attention span/ADD/ADHD/Hyperactivity. Neurologic profile: Hypotonia. Seizures: Absence. Sleep problems: Night terrors. Cardiac issues: PFO. Gastrointestinal abnormalities: Constipation. Skin abnormalities: Rashes. Dental abnormalities: Crooked teeth.
226813
7081774
6854962
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_47
6.33 yrs.
F
ASD and epilepsy/seizures
Prenatal history: Reduced fetal movement, Gestational DM. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Autism, Short attention span/ADD/ADHD/Hyperactivity, Encopresis. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Other brain imaging abnormality. Seizures: Absence, Tonic-clonic, Atonic. EEG: Other abnormal activity. Sleep problems: Sleep apnea. Gastrointestinal abnormalities: Constipation. Frequent infections: Otitis media. Denta abnormalitiesl: Widely-spaced teeth. Additional medical history: Conductive hearing loss (fluid), High pain tolerance.
208047
7186524
6978478
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_48
0.9 yrs.
M
Epilepsy/seizures
Prenatal history: Intracranial cyst. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy, Prematurity, Hypoglycemia, Torticollis. Neurologic profile: Hypotonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia), Cerebral/cerebellar atrophy. Seizures: Absence. EEG: Slowing. Cardiac issues: VSD, PDA. Gastrointestinal abnormalities: Anal stenosis. Dental abnormalities: Delayed eruption.
278757
7062892
6784136
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_49
4.7 yrs.
M
Epilepsy/seizures
Neonatal history: Irritable, Respiratory distress. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping. Neurologic profile: Hypotonia. Seizures: Absence, Febrile. EEG: Slowing. Sleep problems: Sleep difficulty. Gastrointestinal abnormalities: Constipation, GERD. Genitourinary abnormalities: Two urethral opening. Skin abnormalities: Dry skin. Dental abnormalities: Enamel hypoplasia.
208047
7104729
6896683
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_5
5.4 yrs.
M
Epilepsy/seizures
Prenatal history: SGA. Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Irritable, Hypoglycemia, Thermoregulation issues. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly, Delayed myelination. Seizures: Febrile, Tonic-clonic. Sleep problems: Night terrors, Other sleep problems. Gastrointestinal abnormalities: Constipation, GERD. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Rashes. Frequent infections: Otitis media. Dental abnormalities: Widely-spaced teeth, Small teeth. Additional medical history: sensorineural hearing loss (SNHL), Anemia, Asthma.
111748
7022824
6911077
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_6
3.2 yrs.
F
NDD
Prenatal history: Single umbilical artery, Cardiac finding. Neonatal history: Feeding difficulty, Poor suck, Respiratory distress. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Cerebral/cerebellar atrophy, Dandy-Walker malformation, Intracranial cyst. Sleep problems: Sleep difficulty. Cardiac issues: PFO. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation. Growth and Endocrine abnormalities: Precocious puberty. Dental abnormalities: Small teeth.
208047
8235647
8027601
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_7
13.3 yrs.
M
NDD
Neonatal history: Floppy infant, Feeding difficulty, Poor suck, Overly sleepy. Neurobehavioral profile: Stereotypic behaviors/Tics/Hand flapping, Aggessivity/Tantrums/Impulsivity. Neurologic profile: Hypotonia, Difficulty walking/Wobbly, clumsy gait. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Hydrocephalus/Ventriculomegaly, Other brain imaging abnormality. Sleep problems: Sleep difficulty. Visual abnormalities: Refractive error. Gastrointestinal abnormalities: Constipation. Musculoskeletal abnormalities: Pes planus. Genitourinary abnormalities: Cryptorchidism, Hypospadias. Growth and Endocrine abnormalities: Short stature, failure to thrive/poor weight gain. Skin abnormalities: Eczema.
208047
8235647
8027601
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_8
5.3 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Overly sleepy. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (agenesis), Other brain imaging abnormality. Seizures: Absence. Cardiac issues: PFO. Visual abnormalities: Refractive error, Optic nerve (atrophy/enlarged/cupped). Gastrointestinal abnormalities: Feeding difficulty, Other gastrointestinal abnormalities. Musculoskeletal abnormalities: Scoliosis, Coxa valga/Pelvis/Femur head abnormality. Genitourinary abnormalities: Structural kidney abnormalities. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media. Additional medical history: sensorineural hearing loss (SNHL).
214983
7296514
7081532
GRCh38
Deletion
No
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_9
3 yrs.
F
Epilepsy/seizures
Neonatal history: Floppy infant, Poor suck, Overly sleepy, Respiratory distress, Torticollis. Neurologic profile: Hypotonia, Hypertonia. Brain imaging abnormality: abnormality of the corpus callosum (hypoplasia). Seizures: Complex partial. EEG: Slowing, Other abnormal activity. Cardiac issues: ASD. Visual abnormalities: Cortical visual impairment. Gastrointestinal abnormalities: Constipation, GERD, absent gallbladder. Growth and Endocrine abnormalities: failure to thrive/poor weight gain. Frequent infections: Otitis media.
208047
7141592
6933546
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case21020_1
21 yrs.
M
ASD
Autism, language delay, verbal, prominent comorbid OCD, overgrowth. Physical exam at 21 y: macrocephalic (head circumference 60 cm, 1.5 cm greater than the 98%ile), weight 102.5 kg (1.5 kg greater than the 97%ile), height 183 cm (75-90%ile); scaphocephalic, extra fold in the cartilage at the superior aspect of each pinna, prominent lower lip, left upper canine tooth congenitally absent, duplicate set of wisdom teeth in his lower jaw, scoliosis, mild generalized hypotonia, no history of epilepsy. Karyotype: de novo unbalanced translocation shown by FISH, 46,XY, der(8)t(4;8)(4p16.1ter;8p23.1ter). Family history: both parents healthy.
Moderate ID
214984
7149893
6934910
GRCh38
Deletion
Yes
quintela_17_DD/ID_discovery_cases-caseID_471
14 yrs.
F
ASD and intellectual disability
ASD, disruptive behaviors. CNV confirmed by karyotype as an unbalanced product of a paternal translocation [46,XY,t(8;9)(p23;q32)].
Severe intellectual disability
222851
7699471
7476621
GRCh38
Deletion
No
sagar_17_ASD/ADHD/OCD_discovery_cases-case1
26 yrs.
M
Autism, ADHD and OCD
Case diagnosed with ADHD and learning disability at age fo 3 years, ASD at age of 5 years (clinical diagnosis of autism at age of 12 years based on ADI-R and ADOS classifications), and OCD at 18 years. Birth/neonatal history: born at term after a pregnancy complicated by preterm labor treated with cervical cerclage, bedrest from month five and terbutaline; noted in perinatal period to be very irritable; birth weight of 2550 g (5th %ile), length of 50.8 cm (50th %ile); ventricular septal defect than closed spontaneously in infancy. Motor and musculoskeletal evaluation: mild thoracic scoliosis concave to the right; mild global hypotonia; toe walking; large hands and feet. Behavioral/psychiatric evaluation: OCD symptoms consisted of excessive hand washing, excessive use of toilet paper, paper towels, and other repetitive behaviors; poor sleep; irritability; aggression; skin-picking. Additional medical history: eczema (as a child); psoriasis (as an adult); headaches (treated effectively with over-the-counter preparation). Dysmorphic features: scaphocephaly, hypertrichosis of the eyelashes, extra fold in the cartilage at the superior aspect of each pinna, prominent lower lip, congenitally absent left upper canine tooth, duplicate set of wisdom teeth in lower jaw, two lacy hyperpgimented macules. Growth parameters: macrocephaly (head circumference of 60 cm, 1.5 cm greater than 98th %ile); weight of 102.5 kg (1.5 kg greater than 97th %ile); height of 183 cm (81st %ile); BMI of 30.6 (95th %ile). Family history: healthy non-consanguineous parents; two siblings that developed typically; no family history of OCD or pervasive developmental disorder, although father's family was reported to have difficulty with socialization. Additional genetic information: unbalanced translocation der(8)t(4;8)p(16;23).
Peabody Picture Vocabulary Test, Third Edition (PPVT-III) standard scores of 54 at age of 12 years (age equivalency of 4 years 3 months) and 32 at 18 years (age equivalency of 5 years 5 months). Raven's Coloured Progressive Matrices standard score of 33 at age of 12 years. VABS II Adaptive Behavior Composite standard score of 53 at 18 years.
60001
7149893
7089893
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1006-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, fine motor delay, visual motor delay. Dysmorphic features: prominent forehead, prominent ears, high arched palate. Ocular and auditory problems: chronic otitis media, hyperopia. Gastrointestinal problems: problems with swallowing, reflux, constipation. Musculoskeletal problems: pectus excavatum. Brain imaging: complete ACC, normal pituitary gland, large ventricle size, no Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
243585
7913732
7670148
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
N/A
F
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
257819
7068347
6810529
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1041-0
N/A
F
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes. Brain imaging: partial ACC, normal pituitary gland, no Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
239030
7068347
6829318
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1228-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: unknown. Brain imaging: partial ACC, abnormal pituitary gland, small ventricle size, no Probst bundles, decreased white matter volume, and abnormal myelination observed on brain MRI.
Developmental delay: unknown. Intellectual disability: yes.
239030
7068347
6829318
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
N/A
M
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes. Neurological features: spastic diplegic cerebral palsy, hypotonia, hyporeflexia, diminished strength, unsteady gait, fine motor delay, gross motor delay, visual motor delay, deficits in expressive and receptive language skills, deficits in motor oral skills, dysarthria. Ocular and auditory problems: strabismus. Gastrointestinal problems: problems with swallowing, reflux, constipation. Brain imaging: complete ACC, normal pituitary gland, large ventricule size, present Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
214984
7068347
6853364
GRCh38
Deletion
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case14
12 yrs.
F
Developmental delay/intellectual disability and ASD
Developmental delay/intellectual disability, ASD, Dysmorphism
241530
7022841
6781312
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case16
10 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
241530
8222398
7980869
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case6
2 yrs.
M
Developmental delay
Developmental delay
208048
6732539
6524492
GRCh38
Duplication
No
streata_22_ASD/DD/ID_discovery_cases-case118
NA
F
Developmental delay and intellectual disability
Global developmental delay.
Mild/moderate intellectual disability
241529
10867132
10625604
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case78
M
ASD + Epilepsy
Microcephaly, epicanthic folds, hypertelorism, cleft palate, seizures, short stature, behavior problems, ASD
226814
7056554
6829741
GRCh38
Deletion
No
verberne_22_ASD/DD/ID_discovery_cases-case129
NA
M
Agenesis of the corpus callosum, hypotonia, facial dysmorphism
214983
7149893
6934911
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0460-000
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
208049
7141698
6933650
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
akkus_24_ASD/DD/ID_discovery_cases-case42A
De novo
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,AGPAT5,MCPH1,CSMD1,ERICH1,TDRP,ZNF596,FAM87A,DEFT1P,RPL23AP96,XKR5,DEFA9P,DEFA10P,DEFA8P,RPL23AP53,DEFA11P,MIR596,DEFA7P,DEFA1B,PAICSP4,RPS3AP30,RPL23AP54,DEFT1P2,MCPH1-DT,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR8055,MIR7160,KBTBD11-OT1,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case12DG2552
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
chan_22_ASD_discovery_cases-case3-0460-000
RT-PCR, qPCR, or ddPCR
De novo
ANGPT2,CLN8,DEFA4,DEFA6,DEFB1,AGPAT5,MCPH1,CSMD1,ERICH1,TDRP,FAM87A,RPL23AP96,XKR5,DEFA9P,DEFA10P,DEFA8P,MIR596,PAICSP4,RPL23AP54,MCPH1-DT,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR8055,MIR7160,KBTBD11-OT1,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
chaves_19_ASD/DD/ID_discovery_cases-case219
Unknown
MIR3674,MIR596,KBTBD11-OT1,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
chaves_19_ASD/DD/ID_discovery_cases-case372
Unknown
MIR3674,MIR596,KBTBD11-OT1,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
chaves_19_ASD/DD/ID_discovery_cases-case61
Unknown
MIR3674,MIR596,KBTBD11-OT1,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,DLGAP2,MYOM2,CSMD1,FAM66B
chaves_24_ASD/DD/ID_discovery_cases-case995
Unknown
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,AGPAT5,MCPH1,CSMD1,ERICH1,TDRP,ZNF596,FAM87A,DEFT1P,RPL23AP96,XKR5,DEFA9P,DEFA10P,DEFA8P,RPL23AP53,DEFA11P,MIR596,DEFA7P,DEFA1B,PAICSP4,RPS3AP30,RPL23AP54,DEFT1P2,MCPH1-DT,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR8055,MIR7160,KBTBD11-OT1,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
chen_21_ASD/DD/ID_discovery_cases-case17
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A7P,FAM90A21P,FAM90A22P,FAM90A23P,OR7E157P,OR7E154P,FAM90A18P,FAM90A8P,FAM90A17P,FAM90A19P,FAM90A9P,FAM90A10P,PRR23D2,PRR23D3P,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,RPS3AP31,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,MIR124-1HG,MIR124-1,LINCR-0001,PRSS52P,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,FAM90A14P,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,PINX1,LINC00529,MTMR9,TDH,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,FAM90A16P,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,XKR6,FAM167A-AS1,DLGAP2,MYOM2,CSMD1,FAM66B,PRSS51
chen_22_DD/ID_discovery_cases-case28
De novo
ANGPT2,BLK,DEFA5,FDFT1,CLN8,CTSB,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,PINX1,AGPAT5,DEFB103B,MCPH1,CSMD1,MTMR9,PPP1R3B,FAM167A,SLC35G5,LINC00529,FAM167A-AS1,SOX7,LINC00208,FAM86B1,RP1L1,ERI1,CLDN23,DEFB104A,PRSS55,C8orf74,MIR124-1HG,ERICH1,TDRP,TDH,ZNF596,FAM87A,PRAG1,DEFT1P,GATA4,HSPD1P3,DEFB130A,NEIL2,DEFB105A,DEFB106A,DEFB109A,DEFB107A,XKR6,FAM86B3P,USP17L2,PRSS51,OR7E125P,OR7E161P,FAM90A6P,FAM90A3P,FAM90A25P,ZNF705CP,USP17L8,USP17L7,RPL19P13,RPL23AP96,XKR5,FAM90A15P,OR7E158P,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108D,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB135,DEFB134,DEFB109D,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,DEFB136,DEFB108E,USP17L3,RPL10P19,FAM90A12P,HSPD1P2,USP17L4,RPL23AP53,MIR598,DEFA11P,MIR596,MIR597,DEFA7P,FAM86B2,SUB1P1,ZNF705D,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM90A2P,DEFB131C,FAM66B,TDH-AS1,MSRA,PRR23D1,ZNF705G,PRR23D2,FAM66E,DEFB130B,FAM66D,FAM66A,ZNF705B,DEFB109C,DEFB131D,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,ALG1L12P,MIR4286,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,RNA5SP251,CLN8-AS1,KBTBD11-AS1,RNU7-55P,PINX1-DT,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,MSRA-DT,ALG1L13P,RN7SL178P,FAM85B,ENPP7P12,RNU6-1084P,RNU6-682P,SEPTIN14P8,RNU6-729P,RNA5SP253,RN7SKP159,RNU6-526P,ALG1L11P,RN7SL318P,SNRPCP17,RNA5SP254,RNU6-1151P,RN7SL293P,ENPP7P6,DEFB131E,TNKS,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,FBXO25
fan_19_ASD_discovery_cases-caseASD425
Unknown
Unknown
Unknown
MIR3674,MIR596,KBTBD11-OT1,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,ZNF596,TDRP,ERICH1,DLGAP2-AS1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,DLGAP2,MYOM2,CSMD1,FAM66B
fisch_11_ASD_discovery_cases-case1
Unknown (likely de novo based on parents' microarray results)
Unknown
OR4F21,ZNF596,FBXO25,C8orf42,ERICH1,DLGAP2,CLN8,ARHGEF10,KBTBD11,MYOM2,CSMD1,MCPH1,ANGPT2,AGPAT5,XKR5,DEFB1,DEFA6,DEFA4,DEFA1,DEFA1B,DEFA3,DEFA5
fisch_11_ASD_discovery_cases-case2
Unknown (likely de novo based on parents' microarray results)
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
fisch_11_ASD_discovery_cases-case4
Unknown (likely de novo based on parents' microarray results)
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
girirajan_13a_ASD_discovery_cases-13700.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
guo_19_DD/ID_discovery_cases-case9
De novo
MIR3674,MIR596,KBTBD11-OT1,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
han_22_ASD/DD/ID_discovery_cases-case16D2217
Unknown
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,AGPAT5,DEFB103B,MCPH1,CSMD1,CLDN23,DEFB104A,ERICH1,TDRP,ZNF596,FAM87A,PRAG1,DEFT1P,HSPD1P3,DEFB105A,DEFB106A,DEFB107A,FAM86B3P,OR7E125P,FAM90A6P,FAM90A3P,USP17L8,RPL23AP96,XKR5,FAM90A15P,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,USP17L3,FAM90A12P,HSPD1P2,USP17L4,RPL23AP53,DEFA11P,MIR596,DEFA7P,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM66B,PRR23D1,ZNF705G,PRR23D2,FAM66E,ZNF705B,DEFB109C,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP33,MCPH1-DT,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,ALG1L13P,RN7SL178P,FAM85B,RN7SKP159,RN7SL318P,SNRPCP17,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,FBXO25
han_22_ASD/DD/ID_discovery_cases-case16D2299
De novo
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,AGPAT5,DEFB103B,MCPH1,CSMD1,CLDN23,DEFB104A,ERICH1,TDRP,ZNF596,FAM87A,PRAG1,DEFT1P,HSPD1P3,DEFB105A,DEFB106A,DEFB107A,FAM86B3P,OR7E125P,FAM90A6P,FAM90A3P,USP17L8,RPL23AP96,XKR5,FAM90A15P,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,USP17L3,FAM90A12P,HSPD1P2,USP17L4,RPL23AP53,DEFA11P,MIR596,DEFA7P,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM66B,PRR23D1,ZNF705G,PRR23D2,FAM66E,ZNF705B,DEFB109C,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP33,MCPH1-DT,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,ALG1L13P,RN7SL178P,FAM85B,RN7SKP159,RN7SL318P,SNRPCP17,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,FBXO25
han_22_ASD/DD/ID_discovery_cases-case19D1091
Unknown
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,AGPAT5,MCPH1,CSMD1,ERICH1,TDRP,ZNF596,FAM87A,DEFT1P,RPL23AP96,XKR5,DEFA9P,DEFA10P,DEFA8P,RPL23AP53,DEFA11P,MIR596,DEFA7P,DEFA1B,PAICSP4,RPS3AP30,RPL23AP54,DEFT1P2,MCPH1-DT,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR8055,MIR7160,KBTBD11-OT1,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
iourov_12_ASD/ID/EP_discovery_cases-case6
FISH
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,FAM87A,FBXO25,CLN8,KBTBD11,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000196
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,DLGAP2,MYOM2,CSMD1,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000728
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000909
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,DLGAP2,MYOM2,CSMD1,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000934
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000935
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001064
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,DLGAP2,MYOM2,CSMD1,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001084
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001096
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001181
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001257
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001262
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002024
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,DLGAP2,MYOM2,CSMD1,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002276
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002298
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004207
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004297
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,CSMD1,FAM66B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004423
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004907
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
WBP1LP3,OR4F21,SEPT14P8,MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,RN7SL178P,CLDN23,RNU6-682P,MIR4660,RNU7-55P,RNU6-1151P,RNU6-526P,MIR597,LINC00599,MIR124-1,LINCR-0001,RNU6-729P,MIR4286,RNA5SP252,SOX7,MIR1322,MIR598,RPL19P13,SLC35G5,RN7SL293P,RNU6-1084P,LINC00208,C8orf49,SUB1P1,OR7E158P,OR7E161P,DEFB136,DEFB135,DEFB134,DEFB131E,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,FAM86B3P,ALG1L13P,PRAG1,MFHAS1,RPL10P19,PPP1R3B,PRSS55,C8orf74,LINC00529,MTMR9,TDH,FAM167A,GATA4,NEIL2,CTSB,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,ERI1,TNKS,MSRA,RP1L1,PINX1,XKR6,FAM167A-AS1,FDFT1,DLGAP2,MYOM2,CSMD1,FAM66B,PRSS51,BLK
krumm_15_ASD_discovery_cases-case13700.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
lai_24_DD/ID_discovery_cases-case10
PCR or Sanger
De novo
ANGPT2,BLK,DEFA5,FDFT1,CLN8,CTSB,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,PINX1,AGPAT5,DEFB103B,MCPH1,CSMD1,MTMR9,PPP1R3B,FAM167A,SLC35G5,LINC00529,FAM167A-AS1,SOX7,LINC00208,RP1L1,ERI1,CLDN23,DEFB104A,PRSS55,C8orf74,MIR124-1HG,ERICH1,TDRP,TDH,ZNF596,FAM87A,PRAG1,DEFT1P,GATA4,HSPD1P3,NEIL2,DEFB105A,DEFB106A,DEFB107A,XKR6,FAM86B3P,PRSS51,OR7E125P,FAM90A6P,FAM90A3P,USP17L8,RPL19P13,RPL23AP96,XKR5,FAM90A15P,OR4F21,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,USP17L3,RPL10P19,FAM90A12P,HSPD1P2,USP17L4,RPL23AP53,MIR598,DEFA11P,MIR596,MIR597,DEFA7P,SUB1P1,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM66B,TDH-AS1,MSRA,PRR23D1,ZNF705G,PRR23D2,FAM66E,ZNF705B,DEFB109C,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,MIR4286,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,RNA5SP251,CLN8-AS1,KBTBD11-AS1,RNU7-55P,PINX1-DT,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,MSRA-DT,ALG1L13P,RN7SL178P,FAM85B,RNU6-1084P,RNU6-682P,SEPTIN14P8,RNU6-729P,RN7SKP159,RNU6-526P,RN7SL318P,SNRPCP17,RNU6-1151P,RN7SL293P,TNKS,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,FBXO25
levchenko_22_DD/ID_discovery_cases-caseD1011
Unknown
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,AGPAT5,MCPH1,CSMD1,ERICH1,TDRP,ZNF596,FAM87A,DEFT1P,RPL23AP96,XKR5,DEFA9P,DEFA10P,DEFA8P,RPL23AP53,DEFA11P,MIR596,DEFA7P,DEFA1B,PAICSP4,RPS3AP30,RPL23AP54,DEFT1P2,MCPH1-DT,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR8055,MIR7160,KBTBD11-OT1,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
mahjani_21_ASD_discovery_cases-case235
Unknown
ANGPT2,DEFB1,DEFA6,DEFA3,CLN8,DEFA5,DEFA4,DEFA1,AGPAT5,MCPH1,CSMD1,FAM87A,DEFT1P,ERICH1,TDRP,ZNF596,RPL23AP96,XKR5,DEFA10P,DEFA9P,DEFA8P,RPL23AP53,DEFA11P,DEFA1B,DEFA7P,MIR596,PAICSP4,RPS3AP30,RPL23AP54,DEFT1P2,MCPH1-DT,SNRPCP6,MIR3674,MIR4659B,MCPH1-AS1,MIR4659A,DLGAP2-AS1,RNA5SP251,GS1-24F4.2,KBTBD11-AS1,CLN8-AS1,MIR7160,MIR8055,KBTBD11-OT1,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530520
Unknown
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,AGPAT5,MCPH1,CSMD1,ERICH1,TDRP,ZNF596,FAM87A,DEFT1P,OR7E125P,FAM90A3P,RPL23AP96,XKR5,FAM90A15P,OR4F21,FAM90A13P,FAM90A4P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108C,DEFA10P,DEFA8P,USP17L4,RPL23AP53,DEFA11P,MIR596,DEFA7P,DEFA1B,FAM90A20P,PAICSP4,FAM66B,ZNF705G,RPS3AP30,RPL23AP54,DEFT1P2,RPS3AP33,MCPH1-DT,SNRPCP15,SNRPCP6,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR8055,MIR7160,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530522
Unknown
ANGPT2,BLK,DEFA5,FDFT1,CLN8,CTSB,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,PINX1,AGPAT5,DEFB103B,MCPH1,CSMD1,MTMR9,PPP1R3B,FAM167A,SLC35G5,LINC00529,FAM167A-AS1,SOX7,LINC00208,FAM86B1,RP1L1,ERI1,CLDN23,DEFB104A,PRSS55,C8orf74,MIR124-1HG,ERICH1,TDRP,TDH,ZNF596,FAM87A,PRAG1,DEFT1P,GATA4,HSPD1P3,NEIL2,DEFB105A,DEFB106A,DEFB107A,XKR6,FAM86B3P,USP17L2,PRSS51,OR7E125P,OR7E161P,FAM90A6P,FAM90A3P,USP17L8,USP17L7,RPL19P13,RPL23AP96,XKR5,FAM90A15P,OR7E158P,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108D,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB135,DEFB134,DEFB109D,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,DEFB136,USP17L3,RPL10P19,FAM90A12P,HSPD1P2,USP17L4,RPL23AP53,MIR598,DEFA11P,MIR596,MIR597,DEFA7P,SUB1P1,ZNF705D,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM90A2P,DEFB131C,FAM66B,TDH-AS1,MSRA,PRR23D1,ZNF705G,PRR23D2,FAM66E,DEFB130B,FAM66D,ZNF705B,DEFB109C,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,MIR4286,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,RNA5SP251,CLN8-AS1,KBTBD11-AS1,RNU7-55P,PINX1-DT,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,MSRA-DT,ALG1L13P,RN7SL178P,FAM85B,ENPP7P12,RNU6-1084P,RNU6-682P,RNU6-729P,RNA5SP253,RN7SKP159,RNU6-526P,ALG1L11P,RN7SL318P,SNRPCP17,RNU6-1151P,RN7SL293P,DEFB131E,TNKS,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,FBXO25
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530524
Unknown
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,ERICH1,TDRP,ZNF596,FAM87A,DEFT1P,HSPD1P3,DEFB105A,DEFB106A,DEFB107A,OR7E125P,FAM90A6P,FAM90A3P,USP17L8,RPL23AP96,XKR5,FAM90A15P,OR4F21,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,USP17L3,FAM90A12P,HSPD1P2,USP17L4,RPL23AP53,DEFA11P,MIR596,DEFA7P,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM66B,PRR23D1,ZNF705G,PRR23D2,FAM66E,ZNF705B,DEFB109C,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP33,MCPH1-DT,SNRPCP15,MIR548I3,SNRPCP6,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,RN7SKP159,RN7SL318P,SNRPCP17,MYOM2,ARHGEF10,DLGAP2,KBTBD11,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_1
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,USP17L1,FAM90A4P,FAM90A9P,FAM90A5P,FAM90A13P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,FAM90A23P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,PRR23D2,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_21
Unknown
ANGPT2,BLK,DEFA3,FDFT1,CLN8,DEFA4,CTSB,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,DEFB103B,MTMR9,MCPH1,PPP1R3B,CSMD1,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,DEFT1P,TDH,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,GATA4,NEIL2,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL19P13,RPL23AP96,OR7E125P,OR7E161P,OR7E158P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB134,DEFB108A,DEFB108C,DEFB135,DEFB107B,DEFB105B,DEFB136,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,MIR598,DEFA7P,MIR596,FAM90A20P,MIR597,SUB1P1,PAICSP4,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,MIR4286,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RN7SL318P,RN7SKP159,RNU6-526P,RN7SL293P,RNU6-1151P,SNRPCP17,RNU6-729P,DEFB131E,TNKS,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_22
Unknown
ANGPT2,BLK,DEFA3,FDFT1,CLN8,DEFA4,CTSB,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,DEFB103B,MTMR9,MCPH1,PPP1R3B,CSMD1,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,DEFT1P,TDH,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,GATA4,NEIL2,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL19P13,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,OR4F21,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,MIR598,DEFA7P,MIR596,FAM90A20P,MIR597,SUB1P1,PAICSP4,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,MIR4286,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,WBP1LP3,RNU6-1084P,RNU6-682P,SEPTIN14P8,RN7SL318P,RN7SKP159,RNU6-526P,RN7SL293P,RNU6-1151P,SNRPCP17,RNU6-729P,TNKS,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_23
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,DEFB103B,MTMR9,MCPH1,PPP1R3B,CSMD1,FAM167A,SOX7,LINC00529,SLC35G5,FAM167A-AS1,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,DEFT1P,TDH,C8orf74,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL19P13,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,MIR598,DEFA7P,MIR596,FAM90A20P,MIR597,PAICSP4,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,MIR4286,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RN7SL318P,RN7SKP159,RNU6-526P,RN7SL293P,RNU6-1151P,SNRPCP17,RNU6-729P,TNKS,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,SPAG11B
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_24
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,DEFB103B,MCPH1,PPP1R3B,CSMD1,SOX7,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,DEFT1P,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,MIR598,DEFA7P,MIR596,FAM90A20P,MIR597,PAICSP4,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,MIR4286,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU6-682P,RN7SL318P,RN7SKP159,RNU6-526P,RNU6-1151P,SNRPCP17,RNU6-729P,TNKS,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_25
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,DEFB103B,MCPH1,PPP1R3B,CSMD1,SOX7,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,DEFT1P,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,MIR597,PAICSP4,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,MIR4286,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU6-682P,RN7SL318P,RN7SKP159,RNU6-526P,RNU6-1151P,SNRPCP17,RNU6-729P,TNKS,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_28
Unknown
ANGPT2,BLK,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,DEFB103B,MTMR9,MCPH1,PPP1R3B,CSMD1,FAM167A,SOX7,LINC00529,SLC35G5,FAM167A-AS1,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,DEFT1P,TDH,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL19P13,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,MIR598,DEFA7P,MIR596,FAM90A20P,MIR597,PAICSP4,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,MIR4286,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RN7SL318P,RN7SKP159,RNU6-526P,RN7SL293P,RNU6-1151P,SNRPCP17,RNU6-729P,TNKS,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_29
Unknown
ANGPT2,BLK,DEFA3,FDFT1,CLN8,DEFA4,CTSB,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,PINX1,DEFB103B,MTMR9,MCPH1,PPP1R3B,CSMD1,FAM167A,SOX7,LINC00529,SLC35G5,LINC00208,FAM167A-AS1,ERI1,RP1L1,DEFB104A,CLDN23,MIR124-1HG,PRSS55,PRAG1,DEFT1P,TDH,C8orf74,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,GATA4,NEIL2,DEFB107A,DEFB106A,DEFB105A,XKR6,FAM86B3P,PRSS51,FAM90A6P,FAM90A15P,FAM90A3P,RPL19P13,RPL23AP96,OR7E125P,OR7E161P,OR7E158P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,MIR124-1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB134,DEFB108A,DEFB108C,DEFB135,DEFB107B,DEFB105B,DEFB136,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,RPL10P19,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,MIR598,DEFA7P,MIR596,FAM90A20P,MIR597,SUB1P1,PAICSP4,FAM66B,MSRA,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR1322,MIR548I3,PRSS52P,SNRPCP6,SNRPCP15,MIR4286,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,MIR4660,DLGAP2-AS1,MIR4659A,RNA5SP252,RNA5SP251,RNU7-55P,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL178P,ALG1L13P,RNU6-1084P,RNU6-682P,RN7SL318P,RN7SKP159,RNU6-526P,RN7SL293P,RNU6-1151P,SNRPCP17,RNU6-729P,DEFB131E,TNKS,DLGAP2,MYOM2,KBTBD11,ARHGEF10,MFHAS1,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_3
Unknown
ANGPT2,CLN8,DEFB1,AGPAT5,MCPH1,CSMD1,TDRP,ZNF596,FAM87A,ERICH1,XKR5,RPL23AP53,MIR596,PAICSP4,RPL23AP54,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_6
Unknown
ANGPT2,CLN8,DEFB1,AGPAT5,MCPH1,CSMD1,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,RPL23AP53,MIR596,PAICSP4,RPL23AP54,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-casedel(8p)_7
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,OR4F21,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,SNRPCP6,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_1
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,FAM90A4P,OR4F21,FAM90A5P,FAM90A13P,DEFB109B,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,RPL23AP54,DEFT1P2,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_10
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_11
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_12
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_13
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_14
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_15
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_16
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_17
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_18
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_19
Unknown
ANGPT2,CLN8,DEFB1,AGPAT5,MCPH1,CSMD1,TDRP,ZNF596,FAM87A,ERICH1,XKR5,MIR596,PAICSP4,RPL23AP54,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_2
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,FAM90A4P,FAM90A5P,FAM90A13P,DEFB109B,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,RPL23AP54,DEFT1P2,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_20
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,DEFA1B,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_21
Unknown
ANGPT2,CLN8,AGPAT5,MCPH1,CSMD1,TDRP,ZNF596,FAM87A,ERICH1,XKR5,RPL23AP53,MIR596,PAICSP4,RPL23AP54,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_22
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_23
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_24
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_25
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,USP17L1,FAM90A4P,FAM90A9P,FAM90A5P,FAM90A13P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,FAM90A23P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,PRR23D2,PRR23D1,ZNF705G,RPL23AP54,DEFT1P2,DEFB4B,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_26
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_27
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_28
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,USP17L1,FAM90A4P,OR4F21,FAM90A5P,FAM90A13P,DEFB109B,DEFB106B,DEFB108C,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,RPL23AP53,USP17L4,DEFA1B,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,ZNF705G,RPL23AP54,DEFT1P2,DEFB4B,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_29
Unknown
ANGPT2,CLN8,DEFB1,AGPAT5,MCPH1,CSMD1,TDRP,ZNF596,FAM87A,ERICH1,XKR5,RPL23AP53,MIR596,PAICSP4,RPL23AP54,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_3
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_30
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,OR4F21,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,SEPTIN14P8,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_32
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_33
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_34
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,SNRPCP6,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_35
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_36
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_37
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,DEFA1B,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_38
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_39
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM86B3P,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR548I3,SNRPCP6,SNRPCP15,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL318P,RN7SKP159,SNRPCP17,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_4
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_40
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM86B3P,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR548I3,SNRPCP6,SNRPCP15,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL318P,RN7SKP159,SNRPCP17,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_41
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM86B3P,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR548I3,SNRPCP6,SNRPCP15,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL318P,RN7SKP159,SNRPCP17,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_42
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_43
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,USP17L1,FAM90A4P,FAM90A5P,FAM90A13P,DEFB109B,DEFB108C,DEFA8P,DEFB104B,DEFA10P,DEFA9P,RPL23AP53,USP17L4,DEFA1B,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,ZNF705G,RPL23AP54,DEFT1P2,DEFB4B,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_44
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,FAM90A4P,FAM90A5P,FAM90A13P,DEFA8P,DEFA10P,DEFA9P,DEFA1B,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,RPL23AP54,DEFT1P2,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_45
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,USP17L1,FAM90A4P,FAM90A5P,FAM90A13P,DEFB109B,DEFB108C,DEFA8P,DEFB104B,DEFA10P,DEFA9P,RPL23AP53,USP17L4,DEFA1B,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,ZNF705G,RPL23AP54,DEFT1P2,DEFB4B,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_46
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_47
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_48
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_49
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_5
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,OR4F21,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,MIR596,PAICSP4,RPL23AP54,DEFT1P2,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,WBP1LP3,SEPTIN14P8,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_6
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM86B3P,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR548I3,SNRPCP6,SNRPCP15,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL318P,RN7SKP159,SNRPCP17,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_7
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFB4A,DEFA5,DEFA6,DEFA1,AGPAT5,DEFB103B,MCPH1,CSMD1,DEFB104A,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,HSPD1P3,DEFB107A,DEFB106A,DEFB105A,FAM86B3P,FAM90A6P,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,USP17L8,XKR5,OR7E154P,DEFB103A,FAM90A16P,FAM90A18P,FAM90A24P,USP17L1,FAM90A4P,FAM90A9P,FAM90A11P,FAM90A5P,FAM90A13P,OR7E96P,FAM90A10P,OR7E157P,FAM90A7P,FAM90A8P,DEFB109B,DEFB106B,FAM90A21P,DEFB108A,DEFB108C,DEFB107B,DEFB105B,DEFA8P,DEFB104B,DEFA10P,DEFA9P,FAM90A14P,FAM90A22P,HSPD1P2,USP17L3,FAM90A23P,FAM90A12P,RPL23AP53,USP17L4,FAM90A19P,FAM90A17P,DEFA1B,SPAG11A,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,FAM66B,PRR23D2,FAM66E,PRR23D1,ZNF705G,ZNF705B,RPL23AP54,DEFT1P2,DEFB4B,DEFB109C,RPS3AP31,RPS3AP33,RPS3AP30,MIR548I3,SNRPCP6,SNRPCP15,ENPP7P1,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,PRR23D3P,MIR7160,MIR8055,KBTBD11-OT1,FAM85B,RN7SL318P,RN7SKP159,SNRPCP17,DLGAP2,MYOM2,KBTBD11,ARHGEF10,SPAG11B,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_8
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,FAM90A15P,FAM90A3P,RPL23AP96,OR7E125P,XKR5,FAM90A4P,FAM90A5P,FAM90A13P,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,FAM90A20P,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP33,RPS3AP30,SNRPCP6,SNRPCP15,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
okur_21_ASD/EP/NDD_discovery_cases-caseInvdupdel_9
Unknown
ANGPT2,DEFA3,CLN8,DEFA4,DEFB1,DEFA5,DEFA6,DEFA1,AGPAT5,MCPH1,CSMD1,DEFT1P,TDRP,ZNF596,FAM87A,ERICH1,RPL23AP96,XKR5,DEFA8P,DEFA10P,DEFA9P,RPL23AP53,DEFA1B,DEFA11P,DEFA7P,MIR596,PAICSP4,RPL23AP54,DEFT1P2,RPS3AP30,MIR3674,MCPH1-AS1,MIR4659B,DLGAP2-AS1,MIR4659A,RNA5SP251,MIR7160,MIR8055,KBTBD11-OT1,RN7SL318P,RN7SKP159,DLGAP2,MYOM2,KBTBD11,ARHGEF10,FBXO25
pinto_14_ASD_discovery_cases2-case21020_1
qPCR, FISH
De novo
Simplex
(not tested)
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
quintela_17_DD/ID_discovery_cases-caseID_471
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,DLGAP2,MYOM2,CSMD1,FAM66B
sagar_17_ASD/ADHD/OCD_discovery_cases-case1
qPCR, FISH
De novo
Simplex
Segregated
WBP1LP3,OR4F21,SEPT14P8,MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1006-0
qPCR
De novo
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,DLGAP2,MYOM2,CSMD1,FAM66B
sajan_13_ACC/CBLH/PMG_discovery_cases-case1020-0
qPCR
De novo
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1041-0
qPCR
De novo
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1228-0
qPCR
De novo
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1356-0
qPCR
De novo
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
sansovic_17_DD/ID/ASD_discovery_cases-case14
De novo
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
sansovic_17_DD/ID/ASD_discovery_cases-case16
Paternal
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,SNRPCP6,SNRPCP15,RPS3AP33,OR7E125P,FAM90A3P,FAM90A13P,FAM90A5P,FAM90A20P,DEFB109B,USP17L1,USP17L4,DEFB108C,DEFB4B,HSPD1P3,DEFB103B,DEFB106B,DEFB105B,PRR23D1,FAM90A6P,FAM90A21P,OR7E157P,OR7E154P,PRR23D2,DEFB105A,DEFB106A,DEFB104A,DEFB103A,HSPD1P2,DEFB4A,DEFB108A,USP17L8,USP17L3,FAM90A11P,FAM90A24P,OR7E96P,MIR548I3,SNRPCP17,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,FAM90A15P,FAM90A4P,ZNF705G,SPAG11B,DEFB107B,DEFB107A,ZNF705B,FAM90A12P,ENPP7P1,FAM85B,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DEFB104B,SPAG11A,FAM66E,DEFB109C,DLGAP2,MYOM2,CSMD1,FAM66B
shin_15_ASD/DD/ID_discovery_cases-case6
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,DLGAP2,MYOM2,CSMD1
streata_22_ASD/DD/ID_discovery_cases-case118
Unknown
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,DEFB4A,PINX1,AGPAT5,DEFB103B,MCPH1,CSMD1,PPP1R3B,SOX7,RP1L1,ERI1,CLDN23,DEFB104A,PRSS55,C8orf74,MIR124-1HG,ERICH1,TDRP,ZNF596,FAM87A,PRAG1,DEFT1P,HSPD1P3,DEFB105A,DEFB106A,DEFB107A,FAM86B3P,PRSS51,OR7E125P,FAM90A6P,FAM90A3P,USP17L8,RPL23AP96,XKR5,FAM90A15P,OR7E96P,OR7E157P,DEFB103A,FAM90A13P,FAM90A11P,OR7E154P,FAM90A4P,MIR124-1,FAM90A24P,USP17L1,FAM90A5P,DEFB109B,DEFA9P,DEFB108C,FAM90A21P,DEFA10P,DEFB107B,DEFB106B,DEFB105B,DEFB104B,DEFA8P,DEFB108A,USP17L3,RPL10P19,FAM90A12P,HSPD1P2,USP17L4,DEFA11P,MIR596,MIR597,DEFA7P,SPAG11A,DEFA1B,FAM90A20P,PAICSP4,FAM66B,MSRA,PRR23D1,ZNF705G,PRR23D2,FAM66E,ZNF705B,DEFB109C,RPS3AP30,RPL23AP54,RPS3AP31,DEFT1P2,DEFB4B,RPS3AP33,MCPH1-DT,PRSS52P,MIR1322,SNRPCP15,MIR548I3,SNRPCP6,ENPP7P1,MIR4286,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,MIR4660,DLGAP2-AS1,RNA5SP252,RNA5SP251,CLN8-AS1,KBTBD11-AS1,RNU7-55P,PINX1-DT,PRR23D3P,MIR8055,MIR7160,KBTBD11-OT1,MSRA-DT,ALG1L13P,RN7SL178P,FAM85B,RNU6-682P,RNU6-729P,RN7SKP159,RNU6-526P,RN7SL318P,SNRPCP17,RNU6-1151P,TNKS,MYOM2,ARHGEF10,DLGAP2,MFHAS1,KBTBD11,SPAG11B,FBXO25
tzetis_12_DD/ID_discovery_cases-case78
Unknown
Unknown
MIR3674,MIR596,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,GS1-24F4.2,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,KBTBD11-OT1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
verberne_22_ASD/DD/ID_discovery_cases-case129
De novo
ANGPT2,DEFA5,CLN8,DEFA4,DEFA6,DEFA3,DEFA1,DEFB1,AGPAT5,MCPH1,CSMD1,ERICH1,TDRP,ZNF596,FAM87A,DEFT1P,RPL23AP96,XKR5,DEFA9P,DEFA10P,DEFA8P,RPL23AP53,DEFA11P,MIR596,DEFA7P,DEFA1B,PAICSP4,RPS3AP30,RPL23AP54,DEFT1P2,MCPH1-DT,SNRPCP6,MIR3674,MCPH1-AS1,MIR4659B,MIR4659A,DLGAP2-AS1,RNA5SP251,CLN8-AS1,KBTBD11-AS1,MIR8055,MIR7160,KBTBD11-OT1,RN7SKP159,RN7SL318P,MYOM2,ARHGEF10,DLGAP2,KBTBD11,FBXO25
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0460-000
RT-qPCR or WGS
Unknown
MIR3674,MIR596,KBTBD11-OT1,MIR7160,RNA5SP251,PAICSP4,RN7SL318P,RPL23AP54,RN7SKP159,MIR8055,MIR4659A,MIR4659B,DEFB1,RPL23AP96,DEFA6,DEFA4,DEFA8P,DEFA9P,DEFA10P,DEFT1P,DEFA1B,DEFT1P2,DEFA3,DEFA7P,DEFA5,RPS3AP30,RPL23AP53,FAM87A,FBXO25,CLN8,KBTBD11,AGPAT5,DEFA1,DEFA11P,ZNF596,TDRP,ERICH1,DLGAP2-AS1,ARHGEF10,MCPH1,ANGPT2,MCPH1-AS1,XKR5,DLGAP2,MYOM2,CSMD1
null
Controls
No Control Data Available
No Animal Model Data Available