OBO ID: DOID:0080898
Term Name: cerebellofaciodental syndrome Search Ontology:
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. https://pubmed.ncbi.nlm.nih.gov/32896090/
References:
Ontology: Human Disease   (DOID:0080898)
OTHER cerebellofaciodental syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BRF1 Cerebellofaciodental syndrome 616202
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None