Xq13.2-q13.3CNV Type: Duplication
Largest CNV size: 454262 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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...
Duplication
A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism.
Duplication
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
charzewska_14_ASD/ID_discovery_cases
Affected brothers, born to healthy unrelated parents, from a Polish XLID family in which five affected males over two generations were identified.
2
Intellectual disability and autism (diagnostic tools N/A)
N/A
Male
364000
0
2
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
454262
0
1
1
palmer_20_ASD/ADHD/DD/ID_discovery_cases
14 males from 9 families with duplications at the Xq13.2-q13.3 locus affecting the RLIM gene
14
Cases presented with developmental delay, intellectual disability (12/14), ASD or autistic features (8/14), ADHD (3/14), and seizure disorder (2/14)
Range, 3-60 yrs.
100.0% Male
1718440
0
11
11
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
1193000
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
377999
0
2
2
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
charzewska_14_ASD/ID_discovery_cases
Polish
aCGH
N/A
FISH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
palmer_20_ASD/ADHD/DD/ID_discovery_cases
Australia (n=8), France (n=4), United Kindgom (n=1), and United States (n=1)
aCGH, solid phase hybridization
Agilent SurePrint G3 Human 2x400K, Agilent 44K, Agilent 180K, Illumina HumanCyto SNP-12 Beadchip, Illumina CytoSNP 850K Genome Wide
WGS, FISH
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
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
charzewska_14_ASD/ID_discovery_cases-caseIII:1
N/A
M
ASD and ID
Behavioral/psychiatric evaluation: atypical autism. Motor and musculoskeletal evaluation: hyperextension of the elbow joints, excessive mobility of metacarpophalangeal and interphalangeal hand joints, lateral curvature of thoracic spine. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: none. Family history: healthy unrelated parents (II:1 and II:2 in this pedigree); affected brother with ID and ASD; two maternal uncles (II:4 and II:5) with intellectual disability (patient II:4 also suffered from schizophrenia); maternal cousin (patient III:3) with delayed speech development.
Moderate intellectual disability
74679229
75043093
363865
GRCh38
Duplication
Yes
charzewska_14_ASD/ID_discovery_cases-caseIII:2
N/A
M
ASD and ID
Behavioral/psychiatric evaluation: autism. Motor and musculoskeletal evaluation: excessive mobility of the interphalangeal joints of hands and of hip joints. EEG: discrete localized changes in the left side and generalized paroxysmal seizures without clinical manifestation. Brain imaging: normal MRI. Dysmorphic features: none. Family history: healthy unrelated parents (II:1 and II:2 in this pedigree); affected brother with ID and ASD; two maternal uncles (II:4 and II:5) with intellectual disability (patient II:4 also suffered from schizophrenia); maternal cousin (patient III:3) with delayed speech development.
Severe intellectual disability
74679229
75043093
363865
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005398
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
74383490
74837752
454263
GRCh38
Duplication
Yes
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam1-III:1
11 yrs.
M
Developmental delay, intellectual disability, and epilepsy
Birth/neonatal history: intrauterine growth retardation; born at 36 weeks of gestation with a birth weight of 2.5 kg. Developmental milestones: rolling at 9 months, sitting without support at 19 months. Language and communication evaluation: no effective verbal communication. Motor and musculoskeletal evaluation: hypotonia (low central and peripheral tone), hyperreflexia in the lower limbs, reduced mobility. Behavioral/psychiatric evaluation: autistic features (repetitive self-stimulatory behaviors, including back arching and stereotypical hand movements). Epilepsy/seizures: developmental and epileptic encephalopathy; infantile spasms after vaccination at 6 months, main seizure semiology consisted of clusters of atypical and typical spasms, as well as focal seizures. Brain imaging: prominent CSF spaces. Dysmorphic features: medially flared eyebrows, deep-set and relatively small eyes, straight eyebrows, thin upper lip. Growth parameters: height 10th %ile, weight <2nd %ile, head circumference 3rd-5th %ile. Family history: Australian, has two maternal half-brothers with normal development who were both negative for the duplication, maternal XCI 100%.
Severe-profound intellectual disability
74345279
74736519
391241
GRCh38
Duplication
Yes
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam2-II:4
60 yrs.
M
Intellectual disability
Birth/neonatal history: born at term with no prenatal or perinatal complications, birth weight N/D. Developmental milestones: history of developmental delay and learning difficulties. Additional medical history: arthritis of one knee following a traumatic injury, unilateral inguinal hernia, restless legs syndrome, chronic respiratory disease; died at 60 years (possibly secondary to cardiac complications associated with respiratory disease).
Mild intellectual disability
74078618
74719918
641301
GRCh38
Duplication
No
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam2-III:7
23 yrs.
M
ADHD, developmental delay, and intellectual disability
Birth/neonatal history: born at term (38 weeks) by elective caesarean section following a pregnancy notable for mild gestational hypertension with a birth weight of 3.6 kg; feeding difficulties and sleep disturbance in infancy. Developmental milestones: motor delay (walking at 20 months), speech delay (speech articulation concerns). Motor and musculoskeletal evaluation: congenital hip dysplasia, pes planus, metatarsus adductus, clinodactyly. Behavioral/psychiatric evaluation: autistic features, aggressive behavior, ADHD, disordered sleep, sensory processing difficulties, sensitivity to sounds (hyperacusis) and smells, occasional socially inappropriate behavior. Additional medical history: idiopathic thrombocytopenic purpura, hay fever. Dysmorphic features: short palpebral fissures, short and high eyebrows with medial flaring, flat midface, thick lips. Growth parameters: height 25th-50th %ile, weight 50th %ile, head circumference 98th %ile.
Mild intellectual disability
74078618
74719918
641301
GRCh38
Duplication
No
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam2-IV:1
20 yrs.
M
ADHD and intellectual disability
Birth/neonatal history: born at term with no prenatal or perinatal complications, birth weight N/D. Motor and musculoskeletal evaluation: slightly tapering fingers, relatively long second toes. Behavioral/psychiatric evaluation: ADHD, dyslexia. Epilepsy/seizures: one possible afebrile seizure. Brain imaging: neuroepithelial cyst, white matter hyperintensities. Additional medical history: childhood-onset hypothyroidism, ashtma, upper respiratory tract infections. Dysmorphic features: medially flared eyebrows, bilteral epicanthal folds, short palpebral fissures, curly dark hair, attached earlobes. Growth parameters: height 25th-50th %ile, weight 90th %ile, head circumference 50th %ile.
Mild intellectual disability
74078618
74719918
641301
GRCh38
Duplication
No
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam3-III:1
15 yrs.
M
ASD, ADHD, developmental delay, and intellectual disability
Birth/neonatal history: born at term by caesarean section due to fetal distress with no prenatal or perinatal complications, birth weight 4.2 kg. Developmental milestones: normal developmental milestones in first year of life (first words at 12 months, walking at 18 months); global developmental delay (in particular speech and language delay). Language and communication evaluation: stutter. Motor and musculoskeletal evaluation: hypermobility of the fingers and wrist, flat feet, pes planus. Behavioral/psychiatric evaluation: ASD, ADHD, disordered sleep initiation. Epilepsy/seizures: prolonged febrile seizures. Additional medical history: ashtma, a history of frequent severe headaches around 9 years (now resolved). Dysmorphic features: high and broad forehead, flat midface, medially flared eyebrows, short palpebral fissures. Growth parameters: height 50th-75th %ile, weight 75th %ile, head circumference 75th %ile.
Mild intellectual disability; deficits in perceptual reasoning and verbal comphrension.
74104058
75822497
1718440
GRCh38
Duplication
No
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam5-III:1
6 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: born at term following a pregnancy complicated by gestational diabetes; birth weight N/D. Developmental milestones: moderate-severe global developmental delay. Motor and musculoskeletal evaluation: hypotonia, flexible small joints. Behavioral/psychiatric evaluation: ASD, anxiety, hyperarousal, hyperactivity, disordered sleep initiation and maintenance, high pain threshold. Epilepsy/seizures: one possible afebrile seizure. Additional medical history: recurrent ear infections. Dysmorphic features: none reported. Growth parameters: height 50th-75th %ile, weight 25th-50th %ile, head circumference 50th %ile.
Moderate intellectual disability
74569101
75647233
1078133
GRCh38
Duplication
Yes
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam7-III:1
16 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: born at term with no prenatal or perinatal complications; birth weight 3.5 kg. Developmental milestones: significant speech delay (10 words at 3 years); global developmental delay. Motor and musculoskeletal evaluation: hypotonia in infancy, restricted elbow extension. Behavioral/psychiatric evaluation: autistic features, challenging behaviors, hyperactivity. Additional medical history: asthma, recurrent croup, eustachian ear tubes for otitis media with effusion. Dysmorphic features: ptosis, short palperbal fissures, straight eyebrows, posteriorly rotated ears. Growth parameters: height 10th-25th %ile, weight 75th %ile, head circumference 25th %ile. Family history: affected maternal half-brother with mild learning difficulties (does not have duplication), as well as an affected maternal uncle with reported intellectual disability (not tested) and his affected daughter with learning difficulties (not tested).
Mild intellectual disability
74383490
74837752
454263
GRCh38
Duplication
No
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam8-III:1
9 yrs.
M
Intellectual disability
Birth/neonatal history: born at term (40 weeks gestation) following a pregnancy complicated by antenatal hemorrhage; birth weight 3.43 kg. Behavioral/psychiatric evaluation: pervasive developmental disorder, mood swings, disordered sleep. Additional medical history: constipation. Dysmorphic features: anterior hair whorl. Growth parameters: height 13th %ile, weight 6th %ile, head circumference 25th %ile. Family history: affected male relative with autism who is related to the proband via unaffected females (not tested).
Mild intellectual disability (FSIQ ~61)
74326571
75201094
874524
GRCh38
Duplication
Yes
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam9-III:1
11 yrs.
M
Intellectual disability
Birth/neonatal history: born at term with no prenatal or perinatal complications; birth weight 3.02 kg. Motor and musculoskeletal evaluation: bilateral talipes equinovarus, pes planus. Behavioral/psychiatric evaluation: anxiety, short attention span (easily distracted), poor concentration, disordered sleep initiation and maintenance. Dysmorphic features: high forehead, relatively short palpebral fissures, high arched and laterally sparse eyebrows, flat midface, prognathism. Growth parameters: height 75th-90th %ile, weight 90th %ile, head circumference 50th %ile. Family history: two similarly affected maternal half-brothers, both with duplication; affected maternal uncle with speech delay (not tested).
Moderate intellectual disability
74202644
74828531
625888
GRCh38
Duplication
No
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam9-III:2
5 yrs.
M
Intellectual disability
Birth/neonatal history: born at term with no prenatal or perinatal complications; birth weight 3.25 kg. Motor and musculoskeletal evaluation: fifth finger clinodactyly. Behavioral/psychiatric evaluation: no behavioral abnormalities. Dysmorphic features: short palpebral fissures, medially flared eyebrows, flat midface. Growth parameters: height 50th %ile, weight 75th-90th %ile, head circumference 25th-50th %ile. Family history: one similarly affected brother and one similarly affected maternal half-brother (both with duplication); affected maternal uncle with speech delay (not tested).
Mild intellectual disability
74202644
74828531
625888
GRCh38
Duplication
No
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam9-III:3
3 yrs.
M
Developmental delay
Birth/neonatal history: born at term following a pregnancy complicated by antenatal hemorrhage; birth weight 3.26 kg. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: no behavioral abnormalities. Additional medical history: asthma. Dysmorphic features: high and broad forehead, protruding simple ears with anteverted lobes, laterally sparse eyebrows, bilateral epicanthus, short palpebral fissures, flat midface. Growth parameters: height 90th %ile, weight 75th %ile, head circumference 50th %ile. Family history: one similarly affected brother and one similarly affected maternal half-brother (both with duplication); affected maternal uncle with speech delay (not tested).
74202644
74828531
625888
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case97
13 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
73819979
75012791
1192813
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3712301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
74553166
74930165
377000
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3712302
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
74553166
74931165
378000
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
charzewska_14_ASD/ID_discovery_cases-caseIII:1
FISH
Maternal
Multi-generational
X-linked segregation
RNU6-330P,NEXMIF
Reduced expression in patient lymphocytes (66%) and fibroblasts (96%)
charzewska_14_ASD/ID_discovery_cases-caseIII:2
FISH
Maternal
Multi-generational
X-linked segregation
RNU6-330P,NEXMIF
Reduced expression in patient lymphocytes (66%) and fibroblasts (96%)
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005398
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,RLIM,NEXMIF,SLC16A2
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam1-III:1
WGS
Maternal
Simplex
Segregated
RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,RLIM,NEXMIF,SLC16A2
Increased RLIM mRNA and protein expression in patient LCLs compared to WT
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam2-II:4
Maternal
Multi-generational
Likely segregated
UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,DDX3P1,RAB11FIP1P1,RLIM,FTX,BMP2KL,SLC16A2
Increased RLIM mRNA and protein expression in patient LCLs compared to WT
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam2-III:7
Maternal
Multi-generational
Likely segregated
UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,DDX3P1,RAB11FIP1P1,RLIM,FTX,BMP2KL,SLC16A2
Increased RLIM mRNA and protein expression in patient LCLs compared to WT
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam2-IV:1
Maternal
Multi-generational
Likely segregated
UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,DDX3P1,RAB11FIP1P1,RLIM,FTX,BMP2KL,SLC16A2
Increased RLIM mRNA and protein expression in patient LCLs compared to WT
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam3-III:1
Maternal
Simplex
UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,BUD31P2,RNU6-562P,TERF1P7,RPL21P134,PCNPP4,BRAFP1,MAGEE2,DDX3P1,RAB11FIP1P1,RLIM,TTC3P1,FTX,BMP2KL,NEXMIF,ABCB7,UPRT,SLC16A2,ZDHHC15
Increased RLIM mRNA and protein expression in patient LCLs compared to WT
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam5-III:1
WGS
Maternal
Simplex
Segregated
PABPC1P3,RNU6-330P,BUD31P2,RNU6-562P,TERF1P7,RPL21P134,PCNPP4,BRAFP1,RLIM,NEXMIF,ABCB7,UPRT,ZDHHC15
Increased RLIM mRNA and protein expression in patient LCLs compared to WT
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam7-III:1
Maternal
Extended multiplex
Not segregated
RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,RLIM,NEXMIF,SLC16A2
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam8-III:1
FISH
Maternal
Extended multiplex
Unknown
RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,RLIM,NEXMIF,ABCB7,UPRT,SLC16A2
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam9-III:1
Maternal
Extended multiplex
Likely segregated
MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,RAB11FIP1P1,RLIM,FTX,NEXMIF,SLC16A2
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam9-III:2
Maternal
Extended multiplex
Likely segregated
MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,RAB11FIP1P1,RLIM,FTX,NEXMIF,SLC16A2
palmer_20_ASD/ADHD/DD/ID_discovery_cases-caseFam9-III:3
Maternal
Extended multiplex
Likely segregated
MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RPS6P26,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,RAB11FIP1P1,RLIM,FTX,NEXMIF,SLC16A2
sansovic_17_DD/ID/ASD_discovery_cases-case97
Unknown
RPSAP14,UHRF2P1,DDX3P2,MKRN5P,ATP5MDP1,MIR421,MIR374B,MIR374C,RN7SL648P,MIR545,MIR374A,ZCCHC13,RN7SL790P,THAP12P1,RPS7P14,HNRNPA1P25,PABPC1P3,RNU6-330P,XIST,FXYD6P3,DDX3P1,RAB11FIP1P1,RLIM,TSIX,JPX,FTX,BMP2KL,NEXMIF,SLC16A2
yuen_17_ASD_discovery_cases-caseAU3712301
Not available
Maternal
Multiplex
Possibly segregated
PABPC1P3,RNU6-330P,RLIM,NEXMIF
yuen_17_ASD_discovery_cases-caseAU3712302
Not available
Maternal
Multiplex
Possibly segregated
PABPC1P3,RNU6-330P,RLIM,NEXMIF
Controls
No Control Data Available
No Animal Model Data Available