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Human Disease

cerebellofaciodental syndrome

Term ID
DOID:0080898
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. (2)
References
Ontology
Human Disease   ( DOID:0080898 )
Relationships
is a type of
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Genes Involved
Zebrafish Models