Term Name: cerebellofaciodental syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome