Disease association ontology term - MONDO:0012891 - pontocerebellar hypoplasia type 2C
Term summary
- ID
- MONDO:0012891
- Name
- pontocerebellar hypoplasia type 2C
- Ontology or CV name
- Disease association
- Definition
- Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene.