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. https://pubmed.ncbi.nlm.nih.gov/32896090/

References

• OMIM:616202
• ORDO:444072

Ontology

Human Disease   ( DOID:0080898 )