Cerebellar-facial-dental syndrome
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.
Also known as cerebellar-facial-dental syndrome, Cerebellofaciodental syndrome — per MONDO