×
Entrez Id:
6334
Gene Symbol:
SCN8A
SCN8A
Intellectual Disability
0.670
Biomarker
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:
6334
Gene Symbol:
SCN8A
SCN8A
Intellectual Disability
0.670
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Intellectual Disability
0.650
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
6513
Gene Symbol:
SLC2A1
SLC2A1
Intellectual Disability
0.650
Biomarker
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
80155
Gene Symbol:
NAA15
NAA15
Intellectual Disability
0.630
Biomarker
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
80155
Gene Symbol:
NAA15
NAA15
Intellectual Disability
0.630
Biomarker
GENOMICS_ENGLAND
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
55023
Gene Symbol:
PHIP
PHIP
Intellectual Disability
0.610
Biomarker
CTD_human
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
28191889
2017
×
Entrez Id:
55023
Gene Symbol:
PHIP
PHIP
Intellectual Disability
0.610
Biomarker
GENOMICS_ENGLAND
Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (<i>PHIP</i>) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability , anxiety, hypotonia, poor balance, obesity, and dysmorphic features.
27900362
2016
×
Entrez Id:
11160
Gene Symbol:
ERLIN2
ERLIN2
Intellectual Disability
0.610
Biomarker
GENOMICS_ENGLAND
A frameshift mutation of ERLIN2 in recessive intellectual disability , motor dysfunction and multiple joint contractures.
21330303
2011
×
Entrez Id:
11160
Gene Symbol:
ERLIN2
ERLIN2
Intellectual Disability
0.610
Biomarker
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
3340
Gene Symbol:
NDST1
NDST1
Intellectual Disability
0.610
Biomarker
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
3340
Gene Symbol:
NDST1
NDST1
Intellectual Disability
0.610
Biomarker
GENOMICS_ENGLAND
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Intellectual Disability
0.600
Biomarker
GENOMICS_ENGLAND
We investigated a family of three boys with intellectual disability , and among them we identified two different mutations in KDM5C , located at Xp11.22, using whole-exome sequencing.
26919706
2016
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Intellectual Disability
0.600
Biomarker
GENOMICS_ENGLAND
We investigated a family of three boys with intellectual disability , and among them we identified two different mutations in KDM5C , located at Xp11.22, using whole-exome sequencing.
26919706
2016
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Intellectual Disability
0.600
Biomarker
GENOMICS_ENGLAND
Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family.
23403903
2013
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Intellectual Disability
0.600
Biomarker
GENOMICS_ENGLAND
Recently, a homozygous missense mutation in MED13L was found in two siblings with non-syndromic ID from a consanguineous family.
23403903
2013
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Intellectual Disability
0.600
Biomarker
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011
×
Entrez Id:
7528
Gene Symbol:
YY1
YY1
Intellectual Disability
0.600
Biomarker
GENOMICS_ENGLAND
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Intellectual Disability
0.600
Biomarker
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
7528
Gene Symbol:
YY1
YY1
Intellectual Disability
0.600
Biomarker
CTD_human
A de novo paradigm for mental retardation.
21076407
2010
×
Entrez Id:
8242
Gene Symbol:
KDM5C
KDM5C
Intellectual Disability
0.600
Biomarker
GENOMICS_ENGLAND
Mutation analysis of the JARID1C gene was conducted in the following cohorts: probands from 23 XLMR families linked to Xp11.2, 92 males with mental retardation and short stature, and 172 probands from small XLMR families with no linkage information.
18697827
2008
×
Entrez Id:
2593
Gene Symbol:
GAMT
GAMT
Intellectual Disability
0.600
Biomarker
CTD_human
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.
15651030
2005
×
Entrez Id:
2593
Gene Symbol:
GAMT
GAMT
Intellectual Disability
0.600
Biomarker
GENOMICS_ENGLAND
Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
8651275
1996
×
Entrez Id:
112476
Gene Symbol:
PRRT2
PRRT2
Intellectual Disability
0.550
Biomarker
GENOMICS_ENGLAND
This family provides strong evidence that homozygous PRRT2 mutations give rise to more severe clinical disease of mental retardation , episodic ataxia, and absences, and, thus, enlarges the clinical spectrum related to PRRT2 mutations.
23126439
2012
×
Entrez Id:
112476
Gene Symbol:
PRRT2
PRRT2
Intellectual Disability
0.550
Biomarker
CTD_human
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
21937992
2011