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Disease Ontology Browser
cerebellofaciodental syndrome (DOID:0080898)
Alliance: disease page
Synonyms: cerebellar-facial-dental syndrome
Alt IDs: OMIM:616202, ORDO:444072
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory