has material basis in germline mutation in disease has major feature BRF1 syndromic intellectual disability congenital nervous system disorder cerebellar-facial-dental syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/cerebellofaciodental_syndrome cerebellar-facial-dental syndrome 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. UMLS:C4015495 CFDS Orphanet:444072 CEREBELLOFACIODENTAL syndrome MEDGEN:863932 MONDO:0014529 DOID:0080898 Cerebellofaciodental syndrome GARD:0017761 OMIM:616202 multiple congenital anomalies/dysmorphic syndrome-intellectual disability central nervous system malformation hereditary neurological disease