Disease association ontology term - MONDO:0009166 - pontocerebellar hypoplasia type 4
Term summary
- ID
- MONDO:0009166
- Name
- pontocerebellar hypoplasia type 4
- Ontology or CV name
- Disease association
- Definition
- Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.
