Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3

Preferred Label : Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3;

Symbol : MPPH3;

CISMeF acronym : MPPH3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cyclin D2 gene (CCND2, 123833.0001);

Prefixed ID : #615938;

Details

Origin ID

615938;

UMLS CUI

C4014742;

Genes related to phenotype
- Cyclin d2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital onset [HPO term]
- Global developmental delay [HPO term]
- Hydrocephalus [HPO term]
- Macrocephaly [HPO term]
- Megalencephaly [HPO term]
- Polymicrogyria [HPO term]
- Postaxial hand polydactyly [HPO term]
- Prominent forehead [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome [ORDO Disease]
See also inter- (CISMeF)
- CCND2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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