Disease association ontology term - MONDO:0012890 - pontocerebellar hypoplasia type 2B
Term summary
- ID
- MONDO:0012890
- Name
- pontocerebellar hypoplasia type 2B
- Ontology or CV name
- Disease association
- Definition
- Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene.