Metadata | |
---|---|
ID | DOID:0080898 |
Name | 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. https://pubmed.ncbi.nlm.nih.gov/32896090/, https://pubmed.ncbi.nlm.nih.gov/27748960 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
cerebellar-facial-dental syndrome [EXACT] |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |