Disease association ontology term - MONDO:0012683 - pontocerebellar hypoplasia type 6
Term summary
- ID
- MONDO:0012683
- Name
- pontocerebellar hypoplasia type 6
- Ontology or CV name
- Disease association
- Definition
- Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.
