Search Ontology:
Human Disease
cerebellofaciodental syndrome
- Term ID
- DOID:0080898
- Synonyms
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- cerebellar-facial-dental syndrome
- 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. (2)
- References
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- MIM:616202
- ORDO:444072
- Ontology
- Human Disease ( DOID:0080898 )
- is a type of
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Genes Involved
Zebrafish Models