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1q43-q44CNV Type: Duplication


Largest CNV size: 3000000 bp

Statistics Box:
Number of Reports: 12


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

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
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
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
NA
Deletion
The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Deletion
NA
Deletion
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 battaglia_13_DD/ID/ASD_discovery_cases
 Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
 349
 34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
 Range, 5 mos.-19 yrs.
 63.9% Male
 11900000
 2
 0
 2
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 6808570
 2
 0
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 11907623
 19
 5
 24
 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
 6698477
 0
 1
 1
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
 Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
 89985
 64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
 N/A
 N/A
 4981667
 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
 2712937
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 6000000
 2
 0
 2
 mazzonetto_24_ASD/DD/ID_discovery_cases
  NA NA
 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
 6221835
 0
 2
 2
 rooney_23_DD/ID_discovery_cases
 Individuals with de novo 1q44 microdeletions affecting the HNRNPU gene from an initial cohort of 10 individuals with HNRNPU variants.
 3
 All three cases presented with developmental delay (DD) and intellectual disability (ID); two cases also presented with epilepsy, while one case also presented with autistic features.
 Range, 20-31 yrs.
 Male
 7036576
 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
 11790400
 2
 0
 2
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 3000000
 0
 1
 1
 tuncay_22_ASD_discovery_cases
 ASD probands from 22 families (20 trios, 1 quad with two affected siblings, and 1 quad with an affected proband and his unaffected fraternal twin) with recent shared ancestry that were recruited either from Jordan or from the Dallas/Fort Worth area.
 23
 Cases diagnosed with ASD based on standard autism diagnostic measures (ADOS, ADI-R, DSM-V)
 NA
 86.96% Male
 4008527
 0
 1
 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

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 battaglia_13_DD/ID/ASD_discovery_cases
  Italy
 aCGH, array SNP
  BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
 
 
 FISH, qPCR
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 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
 lai_24_DD/ID_discovery_cases
  China
 WES
  Illumina NovaSeq 6000
 
 
 PCR or Sanger
 lionel_13_ASD/ADHD/DD/ID_discovery_cases
  N/A
 aCGH, array SNP, solid phase hybridization
  Multiple platforms (Agilent, Affymetrix, Illumina)
 
 
 None
 mahjani_21_ASD_discovery_cases
  Sweden
 WES
  Infinium OmniExpress Exome
 PennCNV
 NA
 None
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 mazzonetto_24_ASD/DD/ID_discovery_cases
  Brazil
 Low-pass WGS
  Illumina NovaSeq 6000
 SNP-FASST2 (HMM)
 BioDiscovery NxClinical
 
 rooney_23_DD/ID_discovery_cases
  NA
 CMA
  NA
 NA
 NA
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None
 tuncay_22_ASD_discovery_cases
  Predominantly Middle Eastern, South Asian, and European
 WGS
  Illumina HiSeq X
 
 
 

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
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  battaglia_13_DD/ID/ASD_discovery_cases-case46
 10 yrs.
 M
 Developmental delay/intellectual disability
 Autism: no. Epilepsy: no. Dysmorphic features: yes.
 Mild DD/ID
 242088858
 244057044
  1968187
 GRCh38
 Deletion
 Yes
  battaglia_13_DD/ID/ASD_discovery_cases-case61
 2 yrs. 2 mos.
 F
 Developmental delay/intellectual disability and epilepsy
 Autism: no. Epilepsy: yes. Dysmorphic features: yes.
 Severe DD/ID
 237093794
 248934217
  11840424
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300652
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 243144749
 248918469
  5773721
 GRCh38
 Deletion
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300675
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 242240797
 248918469
  6677673
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 243264206
 243561717
  297512
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001165
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 243264206
 243677283
  413078
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001188
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 239558430
 248918469
  9360040
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001667
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 239629868
 248924593
  9294726
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001685
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 243395234
 243719262
  324029
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001881
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 241459440
 247704671
  6245232
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002011
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 243225391
 245289313
  2063923
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002121
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 242828731
 248891309
  6062579
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002341
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 241757249
 248891309
  7134061
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002515
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 243225391
 243572999
  347609
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002641
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 241047422
 248924593
  7877172
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003798
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 242240797
 245200164
  2959368
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003943
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 242076868
 248918469
  6841602
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004045
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 239657468
 248918610
  9261143
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004092
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 238061020
 248918469
  10857450
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004254
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 239496961
 248918469
  9421509
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004358
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 241676908
 245647727
  3970820
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004473
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 240244444
 248891309
  8646866
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004494
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 242410569
 245413313
  3002745
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004689
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 239657468
 248918610
  9261143
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004740
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 243264206
 243716856
  452651
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005238
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 237906379
 244022201
  6115823
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005361
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 243055227
 248918469
  5863243
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005430
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 237041745
 248918469
  11876725
 GRCh38
 Deletion
 Yes
  lai_24_DD/ID_discovery_cases-case50
 2 yrs.
 F
 Autistic behavior
 Autistic behavior, hydrocephalus
 
 242219937
 248918413
  6698477
 GRCh38
 Duplication
 Yes
  lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
 N/A
 M
 Developmental delay and epilepsy
 Agenesis of the corpus callosum, simplified gyral pattern and seizures, developmental delay and history of failure to thrive, microcephaly, feeding difficulties, multiple congenital anomalies
 Developmental delay
 243173936
 248155602
  4981667
 GRCh38
 Deletion
 No
  mahjani_21_ASD_discovery_cases-case174
 NA
 F
 ASD
 Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
 
 242614687
 245327623
  2712937
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown105
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 238061050
 244065841
  6004792
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown106
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
 
 243418036
 243716856
  298821
 GRCh38
 Deletion
 No
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530438
  NA NA
 
 M
 MCA
 Abnormal facial shape (HP:0001999), microcephaly (HP:0000252).
 
 240634588
 243634587
  3000000
 GRCh38
 Duplication
 No
  mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530450
  NA NA
 
 M
 Intellectual disability
 Abnormal facial shape (HP:0001999)
 Intellectual disability (HP:0001249).
 242734588
 248956422
  6221835
 GRCh38
 Duplication
 No
  rooney_23_DD/ID_discovery_cases-case5
 20 yrs.
 M
 Developmental delay and intellectual disability
 Developmental milestones: developmental delay, motor delay, language delay. Growth parameters: microcephaly. ClinVar SCV code SCV002774889).
 Intellectual disability
 241881894
 248918469
  7036576
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1187-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: yes.
 237148868
 248908368
  11759501
 GRCh38
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: unknown.
 242164274
 245299473
  3135200
 GRCh38
 Deletion
 Yes
  shen_10_ASD_discovery_cases-ASD-09-027
 NA
 F
 PDD-NOS
 NA
 NA
 241108889
 244109683
  3000795
 GRCh38
 Duplication
 No
  tuncay_22_ASD_discovery_cases-caseMC-14-3
 NA
 M
 ASD, ADHD, developmental delay, and intellectual disability
 Diagnosis of ASD at 2 years. Developmental milestones: developmental delay. Language and communication evaluation: speech impairment (phonetic). Behavioral/psychiatric evaluation: ADHD. Family history: born to unaffected consanguineous parents of Middle Eastern ancestry.
 Intellectual disability, learning disabilities
 242297778
 246306304
  4008527
 GRCh38
 Duplication
 No

Controls

No Control Data Available

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 battaglia_13_DD/ID/ASD_discovery_cases-case46
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,SEPT14P21,LINC01347,CEP170,AKT3,AKT3-IT1,ZBTB18,PLD5,SDCCAG8
 
 battaglia_13_DD/ID/ASD_discovery_cases-case61
 FISH or qPCR
 
 De novo
 Unknown
 Unknown
 RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300652
 qPCR
 
 De novo
 
 
 FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300675
 qPCR
 
 Unknown
 
 
 RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000993
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FCF1P7,MIR4677,AKT3,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001165
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FCF1P7,MIR4677,FABP7P1,AKT3,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001188
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001667
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001685
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 FABP7P1,AKT3,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001881
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,PLD5,KIF26B,SMYD3,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002011
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,C1orf100,DESI2,KIF26B-AS1,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,KIF26B,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002121
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002341
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002515
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 FCF1P7,MIR4677,CEP170,AKT3,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002641
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003798
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,SEPT14P21,LINC01347,C1orf100,DESI2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,PLD5,KIF26B,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003943
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004045
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004092
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004254
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004358
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,OPN3,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,PLD5,KIF26B,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004473
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004494
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,PLD5,KIF26B,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004689
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004740
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FCF1P7,MIR4677,FABP7P1,AKT3,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005238
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,FMN2,RGS7,PLD5,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005361
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005430
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SKP195,MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,RNU6-1205P,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 lai_24_DD/ID_discovery_cases-case50
 PCR or Sanger
 
 De novo
 
 
 ADSS2,OR2T1,SCCPDH,DESI2,ZNF692,KIF26B,ZNF695,ZNF672,TFB2M,SMYD3,ZNF669,OR2L5,OR2C3,EFCAB2,OR2L9P,OR2T7,OR2G3,SH3BP5L,OR2L6P,OR2AS1P,OR9H1P,OR6R1P,OR2G2,ZNF670,ZNF496,OR14L1P,OR2B11,COX20,OR2T12,TGIF2P1,OR2M5,OR2AJ1,NLRP3,OR2M3,OR2T4,OR2T34,OR14C36,OR2T11,OR2T10,LINC01341,HSD17B7P1,GCSAML,PLD5,C1orf100,CNST,HNRNPU,OR14A16,OR2L13,CATSPERE,PGBD2,OR2T6,LINC01743,VN1R5,OR2W3,OR6F1,OR2T8,OR2T3,OR2T29,LINC02774,OR14K1,LINC02897,OR2M1P,OR14A2,CYCSP5,OR2G6,OR2M7,OR11L1,OR2AK2,RSL24D1P4,OR2T33,OR2L3,OR2L8,OR2M2,OR2T2,OR2T5,OR2T27,OR2X1P,OR2T32P,OR2AS2P,OR2T35,OR14I1,OR13G1,VN1R17P,OR3D1P,OR2W5P,RPL10AP5,LYPD8,LINC01347,ZNF731P,CLK3P2,KIF28P,DPY19L4P1,RPL35AP6,FGFR3P6,CICP21,FCF1P7,MIR3124,MIR3916,FABP7P1,ZNF670-ZNF695,MIR4677,RNA5SP82,DNAJC19P8,AKT3-IT1,LYPD9P,SMYD3-AS1,RN7SL148P,SMYD3-IT1,RN7SKP55,CHCHD4P5,RNU6-1205P,RNU6-999P,RNU6-747P,RNU6-947P,RNU1-132P,RNU6-1089P,RNU6-1283P,AHCYP8,SEPTIN14P21,KIF26B-AS1,ZNF124,CEP170,AKT3,ZBTB18,SDCCAG8,OR2L2,OR2M4,TRIM58,OR1C1,OR2L1P,AHCTF1
 
 lionel_13_ASD/ADHD/DD/ID_discovery_cases-case61
 
 
 Unknown
 
 
 FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,KIF26B,SMYD3,SDCCAG8
 
 mahjani_21_ASD_discovery_cases-case174
 
 
 Unknown
 
 
 ADSS2,DESI2,KIF26B,EFCAB2,COX20,TGIF2P1,C1orf100,HNRNPU,CATSPERE,LINC02774,CYCSP5,RSL24D1P4,LINC01347,CICP21,FCF1P7,MIR4677,FABP7P1,DNAJC19P8,AKT3-IT1,RN7SL148P,RN7SKP55,RNU6-947P,RNU6-999P,RNU6-747P,RNU6-1089P,SEPTIN14P21,RNU1-132P,KIF26B-AS1,AKT3,CEP170,ZBTB18,SDCCAG8
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown105
 
 
 De novo
 Unknown
 Unknown
 YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,FMN2,RGS7,PLD5,SDCCAG8
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown106
 
 
 De novo
 Unknown
 Unknown
 FABP7P1,AKT3,SDCCAG8
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530438
 
 
 Unknown
 
 
 CHML,FH,WDR64,PLD5,TUBB8P6,RSL24D1P4,MAP1LC3C,BECN2,RPL10AP5,CFL1P4,THAP12P8,RPL23AP20,LINC01347,HNRNPA1P42,RFKP1,CICP21,FCF1P7,MIR3123,FABP7P1,MIR4677,RNU5F-8P,RGS7,RNU6-747P,RN7SKP12,SEPTIN14P21,KMO,EXO1,CEP170,AKT3,SDCCAG8,OPN3
 
 mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530450
 
 
 Unknown
 
 
 ADSS2,OR2T1,SCCPDH,DESI2,ZNF692,KIF26B,ZNF695,ZNF672,TFB2M,SMYD3,ZNF669,OR2L5,OR2C3,EFCAB2,OR2L9P,OR2T7,OR2G3,SH3BP5L,OR2L6P,OR2AS1P,OR9H1P,OR6R1P,OR2G2,ZNF670,ZNF496,OR14L1P,OR2B11,COX20,OR2T12,TGIF2P1,OR2M5,OR2AJ1,NLRP3,OR2M3,OR2T4,OR2T34,OR14C36,OR2T11,OR2T10,LINC01341,HSD17B7P1,GCSAML,C1orf100,CNST,HNRNPU,OR14A16,OR2L13,CATSPERE,PGBD2,OR2T6,LINC01743,VN1R5,OR2W3,OR6F1,OR2T8,OR2T3,OR2T29,LINC02774,OR14K1,LINC02897,OR2M1P,OR14A2,CYCSP5,OR2G6,OR2M7,OR11L1,OR2AK2,RSL24D1P4,OR2T33,OR2L3,OR2L8,OR2M2,OR2T2,OR2T5,OR2T27,OR2X1P,OR2T32P,OR2AS2P,OR2T35,OR14I1,OR13G1,VN1R17P,OR3D1P,OR2W5P,LYPD8,RPL23AP25,LINC01347,ZNF731P,CLK3P2,KIF28P,DPY19L4P1,RPL35AP6,FGFR3P6,CICP21,FCF1P7,MIR3124,MIR3916,FABP7P1,ZNF670-ZNF695,MIR4677,RNA5SP82,DNAJC19P8,AKT3-IT1,LYPD9P,SMYD3-AS1,RN7SL148P,SMYD3-IT1,RN7SKP55,CHCHD4P5,RNU6-1205P,RNU6-999P,RNU6-747P,RNU6-947P,RNU1-132P,RNU6-1089P,RNU6-1283P,AHCYP8,SEPTIN14P21,KIF26B-AS1,ZNF124,CEP170,AKT3,ZBTB18,SDCCAG8,OR2L2,OR2M4,TRIM58,OR1C1,OR2L1P,AHCTF1
 
 rooney_23_DD/ID_discovery_cases-case5
 
 
 De novo
 
 
 ADSS2,OR2T1,SCCPDH,DESI2,ZNF692,KIF26B,ZNF695,ZNF672,TFB2M,SMYD3,ZNF669,OR2L5,OR2C3,EFCAB2,OR2L9P,OR2T7,OR2G3,SH3BP5L,OR2L6P,OR2AS1P,OR9H1P,OR6R1P,OR2G2,ZNF670,ZNF496,OR14L1P,OR2B11,COX20,OR2T12,TGIF2P1,OR2M5,OR2AJ1,NLRP3,OR2M3,OR2T4,OR2T34,OR14C36,OR2T11,OR2T10,LINC01341,HSD17B7P1,GCSAML,PLD5,TUBB8P6,C1orf100,CNST,HNRNPU,OR14A16,OR2L13,CATSPERE,PGBD2,OR2T6,LINC01743,VN1R5,OR2W3,OR6F1,OR2T8,OR2T3,OR2T29,LINC02774,OR14K1,LINC02897,OR2M1P,OR14A2,CYCSP5,OR2G6,OR2M7,OR11L1,OR2AK2,RSL24D1P4,OR2T33,OR2L3,OR2L8,OR2M2,OR2T2,OR2T5,OR2T27,OR2X1P,OR2T32P,OR2AS2P,OR2T35,MAP1LC3C,OR14I1,OR13G1,VN1R17P,OR3D1P,OR2W5P,BECN2,RPL10AP5,CFL1P4,LYPD8,RPL23AP20,LINC01347,ZNF731P,CLK3P2,KIF28P,DPY19L4P1,RPL35AP6,FGFR3P6,CICP21,FCF1P7,MIR3124,MIR3916,FABP7P1,ZNF670-ZNF695,MIR4677,RNA5SP82,DNAJC19P8,AKT3-IT1,LYPD9P,SMYD3-AS1,RN7SL148P,SMYD3-IT1,RN7SKP55,CHCHD4P5,RNU6-1205P,RNU6-999P,RNU6-747P,RNU6-947P,RN7SKP12,RNU1-132P,RNU6-1089P,RNU6-1283P,AHCYP8,SEPTIN14P21,KIF26B-AS1,ZNF124,EXO1,CEP170,AKT3,ZBTB18,SDCCAG8,OR2L2,OR2M4,TRIM58,OR1C1,OR2L1P,AHCTF1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1187-0
 qPCR
 
 De novo
 Unknown
 Unknown
 MIR4428,MTCYBP15,MTND6P15,MTND5P18,YWHAQP9,RNU6-725P,KRT18P32,MIPEPP2,CHRM3-AS1,RPS7P5,ADH5P3,RNU5F-8P,THAP12P8,RFKP1,HNRNPA1P42,MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,CHCHD4P5,RNU6-1283P,SMYD3-IT1,LINC01743,C1orf229,MIR3916,RNA5SP82,VN1R17P,VN1R5,OR2B11,OR2W5,OR2G2,OR2G3,OR14L1P,OR3D1P,OR6F1,OR14A2,OR14K1,OR14A16,HSD17B7P1,OR6R1P,OR11L1,OR2W3,OR2T8,OR2AJ1,CLK3P2,OR2L8,OR2AK2,OR2L9P,OR2L6P,OR2L13,OR2M1P,OR2M5,OR2M2,OR2T33,OR2M7,OR14C36,OR2T4,OR2T1,OR2T7,OR2T3,OR2T5,OR2AS2P,OR2AS1P,OR2T34,OR2T27,OR14I1,AHCYP8,DPY19L4P1,MIR3124,PGBD2,ZP4,MTRNR2L11,LINC01139,CHRM3-AS2,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CNST,SCCPDH,LINC01341,AHCTF1,ZNF695,ZNF669,FGFR3P6,ZNF124,ZNF496,NLRP3,GCSAML,OR2C3,GCSAML-AS1,OR13G1,OR1C1,OR9H1P,TRIM58,OR2X1P,OR2L5,OR2L2,OR2L3,OR2T32P,OR2M3,OR2M4,OR2T12,OR2T2,OR2T29,OR2T10,OR2T11,LYPD8,SH3BP5L,ZNF672,ZNF692,RYR2,CHRM3,GREM2,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,TFB2M,KIF28P,ZNF670-ZNF695,ZNF670,OR2L1P,OR2T6,OR2T35,FMN2,RGS7,PLD5,KIF26B,SMYD3,OR2G6,SDCCAG8
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1586-0
 qPCR
 
 De novo
 Unknown
 Unknown
 RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,TGIF2P1,CYCSP5,RN7SKP55,RNU6-947P,RNU6-1089P,RNU6-999P,RNU1-132P,DNAJC19P8,SEPT14P21,LINC01347,C1orf100,DESI2,KIF26B-AS1,CEP170,AKT3,AKT3-IT1,ZBTB18,ADSS,CATSPERE,COX20,HNRNPU,EFCAB2,PLD5,KIF26B,SDCCAG8
 
 shen_10_ASD_discovery_cases-ASD-09-027
 
 
 Maternal
 NA
 NA
 MIR3123,RPL23AP20,CFL1P4,MAP1LC3C,RN7SKP12,RPL10AP5,RSL24D1P4,RNU6-747P,FCF1P7,MIR4677,FABP7P1,RN7SL148P,FH,OPN3,CHML,EXO1,TUBB8P6,SEPT14P21,LINC01347,KMO,WDR64,BECN2,CEP170,AKT3,AKT3-IT1,ZBTB18,RGS7,PLD5,SDCCAG8
 
 tuncay_22_ASD_discovery_cases-caseMC-14-3
 
 
 De novo
 Simplex
 Segregated
 ADSS2,DESI2,KIF26B,SMYD3,EFCAB2,COX20,TGIF2P1,PLD5,C1orf100,HNRNPU,CATSPERE,LINC02774,CYCSP5,RSL24D1P4,RPL10AP5,LINC01347,CICP21,FCF1P7,FABP7P1,MIR4677,DNAJC19P8,AKT3-IT1,SMYD3-AS1,RN7SL148P,RN7SKP55,CHCHD4P5,RNU6-999P,RNU6-747P,RNU6-947P,RNU1-132P,RNU6-1089P,RNU6-1283P,SEPTIN14P21,KIF26B-AS1,CEP170,AKT3,ZBTB18,SDCCAG8
 

Controls

No Control Data Available
No Animal Model Data Available
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