Term Name: | cerebellofaciodental syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0080898] ( DOID:0080898 ) |