×
Entrez Id: 9968
Gene Symbol: MED12
MED12
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
24039113 2013
×
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
26419326 2016
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
18627065 2008
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Mutations in HECW2 are associated with intellectual disability and epilepsy.
27334371 2016
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
27375234 2016
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
28881385 2018
×
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
25920937 2015
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
The SET-domain protein superfamily: protein lysine methyltransferases.
16086857 2005
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
23020937 2012
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
The control of histone lysine methylation in epigenetic regulation.
16919862 2007
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
22712893 2012
×
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Presynaptic CK2 promotes synapse organization and stability by targeting Ankyrin2.
24395637 2014
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Genome-wide atlas of gene expression in the adult mouse brain.
17151600 2007
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.
21082655 2010
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.
23613140 2013
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
19235238 2009
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.
22986149 2013
×
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
29240241 2018
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
22335494 2013
×
Entrez Id: 9968
Gene Symbol: MED12
MED12
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
26273451 2015
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
19938247 2009
×
Entrez Id: 55209
Gene Symbol: SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
GenePaint.org: an atlas of gene expression patterns in the mouse embryo.
14681479 2004
×
Entrez Id: 1457
Gene Symbol: CSNK2A1
CSNK2A1
Dysmorphic features
0.120
GeneticVariation
CLINVAR
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
27048600 2016
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
22460224 2012
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
17478476 2007