×
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:
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:
55209
Gene Symbol:
SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
28866611
2018
×
Entrez Id:
6942
Gene Symbol:
TCF20
TCF20
Dysmorphic features
0.120
CausalMutation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Dysmorphic features
0.120
CausalMutation
CLINVAR
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
28807867
2017
×
Entrez Id:
1457
Gene Symbol:
CSNK2A1
CSNK2A1
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Prevalence and architecture of de novo mutations in developmental disorders.
28135719
2017
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Dysmorphic features
0.120
CausalMutation
CLINVAR
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
28373276
2017
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Dysmorphic features
0.120
CausalMutation
CLINVAR
Three families with mild PMM2-CDG and normal cognitive development.
28425223
2017
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
28807867
2017
×
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:
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:
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:
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:
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
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
26879448
2016
×
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:
6942
Gene Symbol:
TCF20
TCF20
Dysmorphic features
0.120
CausalMutation
CLINVAR
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
27479843
2016
×
Entrez Id:
6925
Gene Symbol:
TCF4
TCF4
Dysmorphic features
0.120
CausalMutation
CLINVAR
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.
27072915
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
CausalMutation
CLINVAR
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
26394714
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
26879448
2016
×
Entrez Id:
5373
Gene Symbol:
PMM2
PMM2
Dysmorphic features
0.120
CausalMutation
CLINVAR
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
26805780
2016
×
Entrez Id:
55209
Gene Symbol:
SETD5
SETD5
Dysmorphic features
0.120
GeneticVariation
CLINVAR
High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.
26482601
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
26394714
2016
×
Entrez Id:
23556
Gene Symbol:
PIGN
PIGN
Dysmorphic features
0.120
GeneticVariation
CLINVAR
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
27038415
2016