10q26.2-q26.3CNV Type: Deletion-Duplication
Largest CNV size: 7342288 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
CNVs within this region were identified in cases from multiple reports (Kaminsky et al., 2011; Iourov et al., 2012; Nguyen et al., 2013).
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocyt...
Deletion
Distal 10q monosomy: new evidence for a neurobehavioral condition?
Deletion
Etiological yield of SNP microarrays in idiopathic intellectual disability.
Deletion
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Deletion
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ciaccio_23_DD_discovery_cases
Individuals with 10q26.2-q26.3 deletions affecting the EBF3 gene from an initial cohort of 6 individuals diagnosed at Carlo Besta Neurologic Institute of Milan, Italy.
2
Both cases presented with developmental delay (DD).
Range, 3 yrs. 8 mos.-6 yrs. 10 mos.
50% Male
7652476
2
0
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1930817
0
1
1
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
7098279
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
5624515
1
0
1
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
5877339
1
0
1
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
2690000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
7342288
3
1
4
maini_18_ASD/DD/ID_discovery_cases
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
6267000
1
1
2
minhas_13_ASD_discovery_cases
Brothers born to healthy non-consanguineous parents and no family history of ASD or intellectual disability
2
Older brother with confirmed diagnosis of ASD (based on evaluation with ADOS-Module 3 and ADI-R); younger brother with possible diagnoses of Tourette syndrome and PDD-NOS (N/A for standardized testing)
Range, 5-7 yrs.
Male
7100000
2
0
2
miyake_23_ASD_discovery_cases
Cohort of ASD probands consisting of 351 trios, 24 quads, and two quintets included in a multi-center cohort.
405
Cases were clinically diagnosed with ASD based on DSM-V.
NA
69.88% Male
5527571
1
0
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
6937431
2
1
3
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
7528872
1
0
1
plaisancie_14_ADHD/ID_discovery_cases
Four new patients of distal 10q syndrome: a sporadic case, and three related patients (proband, her mother, and her maternal half-sister)
4
ADHD, intellectual disability, and behavioral abnormalities
Range, 6 yrs.-N/A
Female
7000000
4
0
4
sanchis_juan_23_ASD/DD/ID_discovery_cases
Individuals affected with a neurodevelopmental disorder (NDD) from the National Institute for Health and Care Research (NIHR) BioResource project.
489
73% (357/489) of the participants in this study had autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), a movement disorder or dystonia, and/or seizures.
NA
NA
2906574
1
0
1
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
5267000
1
0
1
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
1400000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ciaccio_23_DD_discovery_cases
Italy
aCGH
CytoSure oligo ISCA180K
NA
NA
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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)
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
None
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
minhas_13_ASD_discovery_cases
N/A
aCGH
Genome-wide clinical microarray (no other info available)
FISH, aCGH
miyake_23_ASD_discovery_cases
Japan
Exome sequencing
Illumina HiSeq 2000/2500
NA
XHMM
qPCR
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
plaisancie_14_ADHD/ID_discovery_cases
Caucasian
aCGH, FISH
BACs aCGH (CytoChip BAC V3, BlueGnome)
BlueFuse MULTI (BlueGnome)
FISH
sanchis_juan_23_ASD/DD/ID_discovery_cases
United Kingdom
Short-read WGS
Illumina HiSeq 2500/Illumina HiSeq X
Canvas v.1.1.0.5, Manta v.0.23.15
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
utine_14_DD/ID/ASD_discovery_cases
Turkey
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.0
FISH
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
ciaccio_23_DD_discovery_cases-case5
3 yrs. 8 mos.
F
Developmental delay
Developmental milestones: delayed ability to walk (2 years). Motor and musculoskeletal evaluation: mild oculomotor dyspraxia, mild gait ataxia, axial hypotonia with hypertonia of the lower limbs in infancy. Behavioral/psychiatric evaluation: impulsivity, aggressive behavior, emotional dysregulation, low frustration tolerance, constant seeking of attention, repetitive conducts. EEG: slow background activity, poorly organized sleep pattern. Brain imaging: abnormal brain MRI (blurred and wavy folia boundaries, facing cerebellar hemispheres, flattened course of folia white matter stem). Additional medical history: esotropia. Dysmorphic features: deep-set eyes, epicanthus, tented upper lip.
125968430
133620905
7652476
GRCh38
Deletion
No
ciaccio_23_DD_discovery_cases-case6
6 yrs. 10 mos.
M
Developmental delay
Developmental milestones: mildly delayed ability to walk (1 year 4 months). Language and communication evaluation: dysarthria. Motor and musculoskeletal evaluation: oculomotor dyspraxia, orobuccal dyspraxia, slight terminal tremor, dysmetria, mild gait ataxia, valgus feet, flat feet, 5th toe clinodactyly, infantile hypotonia, joint hypermobility. Behavioral/psychiatric evaluation: attention deficit, low frustration tolerance, food selectivity, mild signs of anxiety. EEG: spikes on vertex and centroparietal regions during drowsiness and sleep. Brian imaging: abnormal brain MRI (vermis hypoplasia, facing cerebellar hemispheres, flattened course of folia white matter stem). Additional medical history: esotropia, gastroesophageal reflux. Dysmorphic features: triangular face, thin and mildly upslanting palpebral fissures, narrow nasal ridge, thin lips, tented upper lip, large ears. Growth parameters: short stature (height <3rd %ile, -2.8 SD), decreased body weight (<3rd %ile, -2.6 SD), microcephaly (HC 3rd %ile, -2.2 SD).
IQ 93 (WISC)
127141197
133769456
6628260
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4386_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
127849708
129780525
1930818
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-14091.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
126452054
133565398
7113345
GRCh38
Deletion
Yes
han_22_ASD/DD/ID_discovery_cases-case15D3272
2 yrs. 4 mos.
M
Developmental delay and intellectual disability
Speech delay
Intellectual disability
127989125
133613639
5624515
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case20
2 yrs. 4 mos.
M
Developmental delay
Syndactyly, facial dysmorphisms
Mild developmental delay and cognitive delay
126504191
132256595
5752405
GRCh38
Deletion
No
jiao_19_EP/DD/ID_discovery_cases-caseDD18006638
1 yr.
Female
Developmental delay
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: abnormal posturing. Additional medical history: esotropia.
127602806
130292806
2690001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001975
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
127852284
129780378
1928095
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003770
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
127500483
133620674
6120192
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004372
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
126256585
133613938
7357354
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005379
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
127640489
132776585
5136097
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown8
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
127338746
133590615
6251870
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown9
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
127338746
133590615
6251870
GRCh38
Duplication
No
minhas_13_ASD_discovery_cases-case1
7 yrs.
M
ASD
Diagnosis of ASD based on evaluation with ADOS-Module 3 and ADI-R. Birth/neonatal history: born healthy after normal pregnancy (birth weight of 7 lb.); noted to have feeding difficulties and difficulty fixing and tracking visually (eventually diagnosed with alternating esotropia for which he had corrective surgery with partial vision improvement). Developmental milestones: motor skills showed considerable delay secondary to generalized hypotonia; unable to sit without support until 18 months, unable to walk indepdently until 3 years; noted to have fine motor delays; delayed language development; characteristics of verbal apraxia noted at 14 months; at 23 months case had age-appropriate receptive language skills, but expressive language skills fell 2 SDs below mean; first clear words at 3 years of age, after which language development advanced rapidly. Language and communication evaluation: assessment using Differential Ability Scales-II (DAS-II) suggested that expressive vocabulary stronger than receptive language skills); PPVT-4 evaluation showed single-word receptive language within average range (score of 101, 53rd %ile); ADOS showed usage of complex language primarily involving short sentences with occasional use of unusual language and some repetitive questioning. Behavioral/psychiatric evaluation: limited eye contact, spontaneous gesturing and range of facial expression; engaged in some atypical social interactions; limited ability to describe emotions; exhibited some sensory-seeking behaviors; noted to be very sensitive to certain textures; developed fixations and obsessional behavior; intermittent motor tics, including blinking. Epilepsy/seizures: no history of seizures. Dysmorphic features: none reported. Growth parameters: head circumference in 24th %ile at 28 months of age (no other parameters reported). Family history: younger brother with possible diagnoses of PDD-NOS and Tourette syndrome (minhas_13_ASD_discovery_cases-case2); born to healthy non-consanguienous parents with no family history of ASD or intellectual disability (parents had previous pregnancy that ended in miscarriage); father found by FISH analysis to be carrier of balanced translocation involving chromosomes 10 & 11.
Assessment with Differential Ability Scales-II (DAS-II) indicated overall cognitive abilities in low-average range (GCA score of 89, 23rd %ile); assessment of adaptive behavior using Vineland-II showed adaptive behavior composite in moderately low range (communication, receptive communication, and expressive communication in adequate range; daily living skills and socialization in moderately low range; motor skills in low range).
126442244
133472578
7030335
GRCh38
Deletion
Yes
minhas_13_ASD_discovery_cases-case2
5 yrs.
M
PDD-NOS and Tourette syndrome
Primary diagnosis of PDD-NOS and Tourette syndrome among diagnoses considered by case's child psychiatrist (case not available for standardized testing). Medical history: case exhibited strabismus and GERD at age 3-4 months along with intermittent episodes of tonic stiffening; also noted to have decreased fine motor skills, apraxia, difficulty with motor planning, and mild axial and appendicular hypotonia; some concern regarding torticollis (given tentative diagnosis of Sandifer syndrome); MRI at age of 3 years 7 months revelaed left cerebellar juvenile pilocytic astrocytoma, which was removed shortly thereafter and led to significant improvement (case now able to run downhill, demonstrated improved fine motor skill, and reduced episodes of intermittent eye fluttering and unresponsiveness). Behavioral/psychiatric evaluation: subsequent to surgery to remove left cerebellar juvenile pilocytic astrocytoma, patient exhibited OCD symptoms and tics similar to brother; these symptoms continued up to time of report. Dysmorphic features: none reported. Growth parameters: head circumference at 25th %ile at age of 12 months (no other parameters given). Additional genetic information: carried unbalanced translocation involving chromosomes 10 & 11. Family history: older brother with ASD diagnosis (minhas_13_ASD_discovery_cases-case1); born to healthy non-consanguienous parents with no family history of ASD or intellectual disability (parents had previous pregnancy that ended in miscarriage); father found by FISH analysis to be carrier of balanced translocation involving chromosomes 10 & 11.
126442244
133472578
7030335
GRCh38
Deletion
Yes
miyake_23_ASD_discovery_cases-case26864
NA
F
ASD
Case clinically diagnosed with ASD based on DSM-V criteria.
128040889
133568459
5527571
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249233
N/A
F
Developmental delay/intellectual disability
Database: DECIPHER. Indication for study: Depressed/flat nasal bridge, ear lobule, hypohidrotic or dry skin, large ears, intellectual disability/developmental delay, microcephaly, patchy skin defects, prominent heels, scoliosis
Developmental delay/intellectual disability
128780229
133661283
4881055
GRCh38
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256335
N/A
F
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
126778471
133590967
6812497
GRCh38
Deletion
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256897
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
128114950
133620645
5505696
GRCh38
Deletion
N/A
pfundt_16_NDD_discovery_cases-case107
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: 10qter deletion de novo
125816176
133220113
7403938
GRCh38
Deletion
Yes
plaisancie_14_ADHD/ID_discovery_cases-case1
9 yrs.
F
ADHD and ID
Birth/neonatal history: born prematurely at 36 weeks of amenorrhea after uneventful pregnancy (mother was 26 and father 29 at time of birth); birth weight of 2630 g (50th %ile), length of 47 cm (50th %ile), and OFC of 36 cm (97th %ile); neonatal period complicated by hypotonia and feeding difficulties requiring enteral nutrition for one month. Developmental milestones: sat alone at age of 12 months, walked at age of 23 months; first words at 17 months of age, first sentences at age of 3 years; found to have good fine motor skills at age of 3.5 years; understood simple and blended verbal orders but had more difficulty in understanding complex verbal orders; able to perform symbolic activities. Motor and musculoskeletal evaluation: limb abnormalities (brachydactyly, clinodactyly of 2nd and 5th fingers, planovalgus foot deformity with short metatarsals of 4th and 5th toes. Behavioral/psychiatric evaluation: initially quite sociable; sleeping disorder noticed in first year of life in form of repeated awakenings during the night; hyperactivity, impulsivity, aggressivity, self-injurious behavior, verbal stereotypies, bruxism, trichotillomania, and decreased social interactions from age of 5 years (led to treatment with antipsychotic medication); developed anxiety, perseverations, and disinhibitions at age of 8 years in parallel to persistent sleep disturbance with early awakening (antipsychotic medication stopped due to poor response and anxiolytic recently initiated). Brain imaging: cerebral MRI showed moderate cerebellar hypoplasia with ventricular asymmetry. Dysmorphic features: tall forehead, thick eyebrows, deep set eyes, broad nasal tip, long philtrum, thin upper lip, bifid uvula, broad chin, macrotia, widely spaced nipples. Other anomalies: significant history of ENT infections; astigmatism. Growth parameters: weight of 16.5 kg (+1 SD), height of 99.5 cm (+0.5 SD) and OFC of 50.5 cm (+1 SD) at age of 3.5 years. Family history: first child of healthy related parents (both of Caucasian origin) with no personal or family history of intellectual disability, behavioral difficulties, or malformations; mother had no history of miscarriages; healthy brother.
Mild intellectual disability; general cognitive ability within below-average range of intellectual functioning, as measured by verbal IQ (score of 82) and performance IQ (score of 79), using WPPSI at age of 5.5 years; WISC-IV at ge of 9 years revealed mild ID (Full-scale IQ of 53), decreased score primarily due to significant regression of non-verbal abilites from borderline to mild, while verbal abilities were relatively preserved (dissociation between verbal and non-verbal IQ evocative of manual dyspraixa with visuo-spatial defect).
128628266
133586004
4957739
GRCh38
Deletion
Yes
plaisancie_14_ADHD/ID_discovery_cases-case2
6 yrs.
F
ADHD and ID
Birth/neonatal history: born at 37 weeks gestation after pregnancy marked by intra-uterine growth retardation and single umbilical artery with excessive amniotic fluid, in the context of gestational diabetes; presented with post-natal growth retardation in first year of life requiring enteral nutrition for three years. Developmental milestones: sat alone at age of 12 months, walked at 26 months, said first words at age of 30 months. Behavioral/psychiatric evaluation: concentration deficit, limited attention span. Brain imaging: normal. Other anomalies: significant history of ENT infections; severe astigmatism; posterior cleft palate. Dysmorphic features: microcephaly, tall forehead, hypertelorism, broad nasal ridge, long philtrum, thin vermillion of the lips, broad chin, macrotia. Growth parameters: growth retardation; weight of 12 kg (-2 SD), height of 98 cm (-0.5 SD) and OFC of 45 cm (-3.5 SD). Family history: second child of unrelated patients, both of Caucasian origin; maternal half-sister (case4) and mother (case3) both present with similar neurobehavioral phenotypes; maternal grandfather described as person with behavioral problems and difficulties in social interactions.
Moderate intellectual disability
126442053
133402080
6960028
GRCh38
Deletion
Yes
plaisancie_14_ADHD/ID_discovery_cases-case3
N/A
F
ADHD and ID
Motor and musculoskeletal evaluation: limb abnormalities (5th finger clinodactyly). Behavioral/psychiatric evaluation: bradypsychia, apathy. Other features: wore eyeglasses for astigmatism and myopia; one miscarriage in obstetric history. Dysmorphic features: tall forehead, hypertelorism, broad nasal ridge, long philtrum, thin vermillion of the lips, broad chin, macrotia. Growth parameters: growth retardation; height of 145 cm. Family history: two female offspring (case2 and case4) with similar neurobehavioral phenotypes; father described as person with behavioral problems and difficulties in social interactions.
Moderate intellectual disability; attended specialized school when she was young.
126442053
133402080
6960028
GRCh38
Deletion
No
plaisancie_14_ADHD/ID_discovery_cases-case4
16 yrs.
F
ADHD and ID
Birth/neonatal history: born at term after uneventful pregnancy; birth weight of 2700 g and length of 46 cm; uneventful neonatal period. Developmental milestones: presented with global developmental delay; sat at 19 months of age, said her first words late. Motor and musculoskeletal evaluation: limb abnormalties (5th finger clinodactyly, short metatarsals of 5th toes). Behavioral/psychiatric evaluation: spasmophilia, concentration deficit, limited attention span; treated by pediatric psychiatrist for anxiety attacks from an early age. Other features: significant history of ENT infections; wears eyeglasses for astigmatism and myopia. Dysmorphic features: tall forehead, hypertelorism, broad nasal ridge, long philtrum, thin vermillion of the lips, broad chin, macrotia. Growth parameters: growth retardation; weight of 55 kg (+0.5 SD), height of 146.5 cm (-2.5 SD) and OFC of 54.5 cm (-0.5 SD) at age of 16 years. Family history: maternal half-sister (case2) and mother (case3) both present with similar neurobehavioral phenotypes; maternal grandfather described as person with behavioral problems and difficulties in social interactions.
Moderate intellectual disability; currently in special school for moderate learning difficulties.
126442053
133402080
6960028
GRCh38
Deletion
No
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG003425
NA
M
Movement disorder
Patient presented with movement disorder.
128143881
131050454
2906574
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case9
1 yr.
M
Developmental delay
Developmental delay, lipomeningomyelocele
128360440
133612882
5252443
GRCh38
Deletion
No
utine_14_DD/ID/ASD_discovery_cases-case8
5 yrs.
M
Developmental delay and autism/autistic features
Referred at age of 1.5 years for developmental delay. Birth/neonatal history: delivered at 38 weeks of gestation with birth weight of 2750 g. Developmental milestones: head control at 2 months of age, sitting without support at 10 months of age, walking with support at 18 months of age; walked at 3.5 years of age. Language and communication evaluation: no words at age of 5 years. Behavioral/psychiatric evaluation: autism/autistic features. Epilepsy/seizures: no (doubtful seizure at age of 40 days). Brain imaging: normal. Dysmorphic features: long face with bitemporal narrowing, large ears, strabismus, thin upper lip, mildly elevated palate. Growth parameters: weight of 9.7 kg (3rd-10th %ile), height of 84 cm (75th %ile), and head circumference of 45 cm (<3rd %ile) at initial referral; remained microcephalic at follow-up visit. Family history: first child of healthy consanguineous parents; mother revealed to have balanced reciprocal translocation 46,XX,t(10;20)(q26.2;q13.2).
MIld DD/ID (mean area of delay/disability: global)
N/A
N/A
1400000
Unknown
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
ciaccio_23_DD_discovery_cases-case5
De novo
ADAM8,BNIP3,ECHS1,DOCK1,CYP2E1,VENTX,CALY,CFAP46,PPP2R2D,LRRC27,ADGRA1,OR6L2P,OR7M1P,SYCE1,MTG1,NKX6-2,FANK1,KNDC1,ZNF511,CTAGE7P,C10orf90,CLRN3,PRAP1,LINC02870,PAOX,PWWP2B,INPP5A,TCERG1L,EBF3,STK32C,JAKMIP3,FUOM,C10orf143,LINC01164,LINC01168,FOXI2,OR6L1P,BANF1P2,SCART1,SAR1AP2,NPS,SPRN,INSYN2A,MIR202,LINC02667,ADGRA1-AS1,LINC01165,MGMT,MKI67,RPL5P28,MIR378C,MIR4297,MIR3944,BUB1P1,RNA5SP328,TCERG1L-AS1,LINC01163,PPIAP32,FANK1-AS1,MIR202HG,LINC00601,LINC01166,PTPRE,LINC01167,ZNF511-PRAP1,LINC02666,LINC02646,ADAM12,UTF1,DPYSL4,GLRX3,TUBGCP2
ciaccio_23_DD_discovery_cases-case6
De novo
ADAM8,BNIP3,ECHS1,DOCK1,CYP2E1,VENTX,CALY,CFAP46,PPP2R2D,LRRC27,ADGRA1,OR6L2P,OR7M1P,SYCE1,MTG1,NKX6-2,KNDC1,ZNF511,CTAGE7P,CLRN3,PRAP1,LINC02870,PAOX,PWWP2B,INPP5A,TCERG1L,EBF3,STK32C,JAKMIP3,FUOM,C10orf143,LINC01164,LINC01168,DUX4L11,FOXI2,OR6L1P,DUX4L15,DUX4L10,DUX4L12,BANF1P2,FRG2B,SCART1,NPS,SPRN,INSYN2A,MIR202,AGGF1P2,RARRES2P2,DUX4L14,LINC02667,ADGRA1-AS1,LINC01165,MGMT,MKI67,RPL5P28,DUX4L13,CLUHP5,MIR378C,MIR4297,MIR3944,BUB1P1,TCERG1L-AS1,LINC01163,PPIAP32,MIR202HG,LINC01166,PTPRE,DUX4L20,DUX4L21,DUX4L25,DUX4L24,DUX4L22,DUX4L23,LINC01167,ZNF511-PRAP1,DUX4L29,DUX4L28,LINC02666,LINC02646,UTF1,DPYSL4,GLRX3,TUBGCP2
engchuan_15_ASD_discovery_cases-case4386_1
Unknown
BUB1P1,CLRN3,MKI67,LINC01163,MGMT,PTPRE
girirajan_13a_ASD_discovery_cases-14091.p1
aCGH (NimbleGen 135K array)
De novo
Simplex
Possibly segregated
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PTPRE,C10orf143,JAKMIP3,KNDC1
han_22_ASD/DD/ID_discovery_cases-case15D3272
De novo
ADAM8,BNIP3,ECHS1,CYP2E1,VENTX,CALY,CFAP46,PPP2R2D,LRRC27,ADGRA1,OR6L2P,OR7M1P,SYCE1,MTG1,NKX6-2,KNDC1,ZNF511,CTAGE7P,PRAP1,LINC02870,PAOX,PWWP2B,INPP5A,TCERG1L,EBF3,STK32C,JAKMIP3,FUOM,C10orf143,LINC01164,LINC01168,OR6L1P,BANF1P2,SCART1,SPRN,MIR202,LINC02667,ADGRA1-AS1,LINC01165,MGMT,MKI67,RPL5P28,MIR378C,MIR4297,MIR3944,TCERG1L-AS1,LINC01163,PPIAP32,MIR202HG,LINC01166,PTPRE,LINC01167,ZNF511-PRAP1,LINC02666,LINC02646,UTF1,DPYSL4,GLRX3,TUBGCP2
iourov_12_ASD/ID/EP_discovery_cases-case20
Unknown
Unknown
Unknown
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,PTPRE,C10orf143,JAKMIP3
jiao_19_EP/DD/ID_discovery_cases-caseDD18006638
Maternal
Simplex
Not segregated
FOXI2,BUB1P1,CLRN3,LINC02667,MIR4297,CTAGE7P,PPIAP32,MKI67,LINC02666,LINC01163,MGMT,EBF3,GLRX3,LINC02646,PTPRE,C10orf143
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001975
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BUB1P1,CLRN3,MKI67,LINC01163,MGMT,PTPRE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003770
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PTPRE,C10orf143,JAKMIP3,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004372
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SAR1AP2,FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC00601,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,ADAM12,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PTPRE,C10orf143,JAKMIP3,KNDC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005379
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,PTPRE,C10orf143,JAKMIP3
maini_18_ASD/DD/ID_discovery_cases-case_unknown8
De novo
Unknown
Unknown
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,DOCK1,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PTPRE,C10orf143,JAKMIP3,KNDC1
maini_18_ASD/DD/ID_discovery_cases-case_unknown9
De novo
Unknown
Unknown
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,DOCK1,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PTPRE,C10orf143,JAKMIP3,KNDC1
minhas_13_ASD_discovery_cases-case1
aCGH
Likely de novo (CNV not detected in either parent, father carries balanced translocation)
Multiplex
Possibly segregated
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,PTPRE,C10orf143,JAKMIP3,KNDC1
minhas_13_ASD_discovery_cases-case2
FISH, aCGH
Likely de novo (CNV not detected in either parent, father carries balanced translocation)
Multiplex
Possibly segregated
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,PTPRE,C10orf143,JAKMIP3,KNDC1
miyake_23_ASD_discovery_cases-case26864
qPCR
De novo
ADAM8,BNIP3,ECHS1,CYP2E1,VENTX,CALY,CFAP46,PPP2R2D,LRRC27,ADGRA1,OR6L2P,OR7M1P,SYCE1,MTG1,NKX6-2,KNDC1,ZNF511,CTAGE7P,PRAP1,LINC02870,PAOX,PWWP2B,INPP5A,TCERG1L,EBF3,STK32C,JAKMIP3,FUOM,C10orf143,LINC01164,LINC01168,BANF1P2,SCART1,SPRN,MIR202,LINC02667,ADGRA1-AS1,LINC01165,MGMT,MKI67,RPL5P28,MIR378C,MIR4297,MIR3944,TCERG1L-AS1,LINC01163,PPIAP32,MIR202HG,LINC01166,PTPRE,LINC01167,ZNF511-PRAP1,LINC02666,LINC02646,UTF1,DPYSL4,GLRX3,TUBGCP2
nguyen_13_DD/ID/MCA/ASD_discovery_cases-249233
Unknown
Unknown
Unknown
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,FRG2B,RARRES2P2,AGGF1P2,CLUHP5,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256335
Unknown
Unknown
Unknown
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,PTPRE,C10orf143,JAKMIP3,KNDC1
nguyen_13_DD/ID/MCA/ASD_discovery_cases-256897
Unknown
Unknown
Unknown
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
pfundt_16_NDD_discovery_cases-case107
Array SNP (Affymetrix CytoScan HD)
De novo
MIR4484,RNU2-42P,GNG10P1,FANK1-AS1,RNA5SP328,SAR1AP2,FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UROS,DHX32,LINC00601,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,FANK1,ADAM12,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,PTPRE,C10orf143,JAKMIP3,KNDC1,BCCIP
plaisancie_14_ADHD/ID_discovery_cases-case1
FISH
De novo
Simplex
Segregated
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
plaisancie_14_ADHD/ID_discovery_cases-case2
FISH
Maternal
Maternal
Multi-generational
Likely segregated
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,PTPRE,C10orf143,JAKMIP3,KNDC1
plaisancie_14_ADHD/ID_discovery_cases-case3
Unknown
Multi-generational
Likely segregated
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,PTPRE,C10orf143,JAKMIP3,KNDC1
plaisancie_14_ADHD/ID_discovery_cases-case4
Maternal
Maternal
Multi-generational
Likely segregated
FOXI2,BUB1P1,CLRN3,MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,NPS,MKI67,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,C10orf90,DOCK1,INSYN2,LINC01163,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,PTPRE,C10orf143,JAKMIP3,KNDC1
sanchis_juan_23_ASD/DD/ID_discovery_cases-caseG003425
Unknown
Simplex
CTAGE7P,EBF3,C10orf143,LINC02667,MGMT,MIR378C,MIR4297,LINC01163,PPIAP32,LINC02666,LINC02646,GLRX3
shin_15_ASD/DD/ID_discovery_cases-case9
Unknown
Unknown
MIR4297,CTAGE7P,PPIAP32,MIR378C,TCERG1L-AS1,LINC01165,NKX6-2,LINC01167,RPL5P28,UTF1,VENTX,MIR202HG,MIR202,ZNF511,BANF1P2,FUOM,MIR3944,SPRN,OR7M1P,OR6L1P,LINC01164,PPP2R2D,BNIP3,DPYSL4,LRRC27,PWWP2B,C10orf91,LINC01166,LINC01168,ADGRA1,ADGRA1-AS1,ADAM8,ZNF511-PRAP1,CALY,PRAP1,ECHS1,PAOX,MTG1,SCART1,CYP2E1,MGMT,EBF3,GLRX3,TCERG1L,STK32C,INPP5A,CFAP46,TUBGCP2,OR6L2P,SYCE1,C10orf143,JAKMIP3,KNDC1
utine_14_DD/ID/ASD_discovery_cases-case8
FISH
De novo
Possible simplex
Possibly segregated
Multiple genes
Controls
No Control Data Available
No Animal Model Data Available