Hydrocephalus, congenital, 3, with brain anomalies

Preferred Label : Hydrocephalus, congenital, 3, with brain anomalies;

Symbol : HYC3;

CISMeF acronym : HYC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydrocephalus, nonsyndromic, autosomal recessive 3;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the WD repeat-containing protein 81 gene (WDR81, 614218.0003);

Prefixed ID : #617967;

Details

Origin ID

617967;

UMLS CUI

C4747885;

Genes related to phenotype
- Wd repeat-containing protein 81 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brain atrophy [HPO term]
- Congenital onset [HPO term]
- Dandy-Walker malformation [HPO term]
- Holoprosencephaly [HPO term]
- Hydranencephaly [HPO term]
- Hydrocephalus [HPO term]
- Macrocephaly [HPO term]
- Polyhydramnios [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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