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Metadata
ID	DOID:0080898
Name	cerebellofaciodental 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. https://pubmed.ncbi.nlm.nih.gov/32896090/
Xrefs	OMIM:616202 ORDO:444072
Subsets	DO_rare_slim
Synonyms	cerebellar-facial-dental syndrome [EXACT]
Parent Relationships	is_a syndrome is_a autosomal recessive disease