×
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Dysmorphic features
0.120
CausalMutation
CLINVAR
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
24498599 2013
×
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
25920937 2015
×
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
Dysmorphic features
0.120
CausalMutation
CLINVAR
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
27436265 2016
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
CausalMutation
CLINVAR
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
18728071 2008
×
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: 5373
Gene Symbol: PMM2
PMM2
Dysmorphic features
0.120
CausalMutation
CLINVAR
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).
10854097 2000
×
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: 5373
Gene Symbol: PMM2
PMM2
Dysmorphic features
0.120
CausalMutation
CLINVAR
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.
11343337 2001
×
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
Dysmorphic features
0.120
CausalMutation
CLINVAR
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2.
26488408 2015
×
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: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
CausalMutation
CLINVAR
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
17436254 2007
×
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: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
CausalMutation
CLINVAR
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
22045651 2012
×
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: 23556
Gene Symbol: PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.
18635593 2008
×
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: 23556
Gene Symbol: PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
26364997 2016
×
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
Dysmorphic features
0.120
CausalMutation
CLINVAR
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
22335494 2013
×
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: 23556
Gene Symbol: PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
26419326 2016
×
Entrez Id: 23556
Gene Symbol: PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.
10574991 1999