Disease association ontology term - MONDO:0012438 - pontocerebellar hypoplasia type 5
Term summary
- ID
- MONDO:0012438
- Name
- pontocerebellar hypoplasia type 5
- Ontology or CV name
- Disease association
- Definition
- Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.
