×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
0.300
Biomarker
disease
CTD_human
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
16236810
2006
×
Entrez Id:
2263
Gene Symbol:
FGFR2
FGFR2
0.300
Biomarker
disease
CTD_human
Syndromic craniosynostosis with elbow joint contracture.
16465081
2006
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
CTD_human
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
17427195
2007
×
Entrez Id:
64220
Gene Symbol:
STRA6
STRA6
0.300
Biomarker
disease
CTD_human
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
17273977
2007
×
Entrez Id:
2290
Gene Symbol:
FOXG1
FOXG1
0.300
Biomarker
disease
CTD_human
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
18627055
2008
×
Entrez Id:
9378
Gene Symbol:
NRXN1
NRXN1
0.300
Biomarker
disease
CTD_human
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha.
18057082
2008
×
Entrez Id:
80746
Gene Symbol:
TSEN2
TSEN2
0.300
Biomarker
disease
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
283989
Gene Symbol:
TSEN54
TSEN54
0.300
Biomarker
disease
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
5080
Gene Symbol:
PAX6
PAX6
0.300
Biomarker
disease
CTD_human
Pax6 3' deletion results in aniridia, autism and mental retardation.
18322702
2008
×
Entrez Id:
79042
Gene Symbol:
TSEN34
TSEN34
0.300
Biomarker
disease
CTD_human
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
18711368
2008
×
Entrez Id:
81704
Gene Symbol:
DOCK8
DOCK8
0.300
Biomarker
disease
CTD_human
Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.
18060736
2008
×
Entrez Id:
57282
Gene Symbol:
SLC4A10
SLC4A10
0.300
Biomarker
disease
CTD_human
Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.
18413482
2008
×
Entrez Id:
6792
Gene Symbol:
CDKL5
CDKL5
0.010
GeneticVariation
disease
BEFREE
This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys.
18809835
2008
×
Entrez Id:
4669
Gene Symbol:
NAGLU
NAGLU
0.310
Biomarker
disease
BEFREE
Sanfilippo syndrome type B (mucopolysaccharidosis III B, MPS III B ) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia.
19416848
2009
×
Entrez Id:
131669
Gene Symbol:
UROC1
UROC1
0.300
Biomarker
disease
CTD_human
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
19304569
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
CTD_human
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751
2009
×
Entrez Id:
56623
Gene Symbol:
INPP5E
INPP5E
0.300
Biomarker
disease
CTD_human
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
19668215
2009
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.300
Biomarker
disease
CTD_human
Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
18759867
2009
×
Entrez Id:
147372
Gene Symbol:
CCBE1
CCBE1
0.300
Biomarker
disease
CTD_human
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
19935664
2009
×
Entrez Id:
22941
Gene Symbol:
SHANK2
SHANK2
0.310
Biomarker
disease
CTD_human
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
20473310
2010
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
10743
Gene Symbol:
RAI1
RAI1
0.300
Biomarker
disease
CTD_human
Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
19752160
2010
×
Entrez Id:
116442
Gene Symbol:
RAB39B
RAB39B
0.300
Biomarker
disease
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
2332
Gene Symbol:
FMR1
FMR1
0.300
Biomarker
disease
CTD_human
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism.
20425835
2010
×
Entrez Id:
26040
Gene Symbol:
SETBP1
SETBP1
0.300
Biomarker
disease
CTD_human
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20436468
2010