Disease association ontology term - MONDO:0014529 - cerebellar-facial-dental syndrome
Term summary
- ID
- MONDO:0014529
- Name
- cerebellar-facial-dental syndrome
- Ontology or CV name
- Disease association
- Definition
- A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has material basis in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32.
