|OBO ID: DOID:0080898|
|Term Name:||cerebellofaciodental syndrome||Search Ontology:|
|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/|
|Ontology:||Human Disease (DOID:0080898)|
|is a type of:||
OTHER cerebellofaciodental syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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