Version: 8.0.0
Date: Tue Jan 28 2025
cerebellofaciodental syndrome
DOID:0080898
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • cerebellar-facial-dental syndrome
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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