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Cerebellar-facial-dental syndrome
rareA 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.
- Identifiers
- MONDO:0014529 OMIM:616202Orphanet:444072
- Causal genes
- BRF1
- Part of
- Central nervous system malformationCongenital nervous system disorderHereditary neurological diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- CEREBELLOFACIODENTAL syndrome · CFDS
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