Pontocerebellar hypoplasia, type 12

Preferred Label : Pontocerebellar hypoplasia, type 12;

Symbol : PCH12;

CISMeF acronym : PCH12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coenzyme A synthase gene (COASY, 609855.0004);

Prefixed ID : #618266;

Details

Origin ID

618266;

UMLS CUI

C4748873;

Automatic exact mappings (from CISMeF team)
- Pontocerebellar hypoplasia type 12 [ORDO Disease]
Genes related to phenotype
- Coenzyme a synthase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral hypoplasia [HPO term]
- Congenital onset [HPO term]
- Death in infancy [HPO term]
- Flexion contracture [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Sloping forehead [HPO term]
ORDO concept(s)
- Pontocerebellar hypoplasia type 12 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients