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. [ DOID:0080898 ]
Synonyms: cerebellar-facial-dental syndrome Cerebellofaciodental syndrome
Term information
- Orphanet:444072 (MONDO:equivalentTo)
- DOID:0080898 (MONDO:equivalentTo)
- OMIM:616202 (Orphanet:444072/e)
- GARD:17761 (MONDO:GARD)
- MEDGEN:863932 (MONDO:equivalentTo)
- UMLS:C4015495 (MONDO:equivalentTo)
ordo_disorder, gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://www.orpha.net/ORDO/Orphanet_444072
http://linkedlifedata.com/resource/umls/id/C4015495
http://purl.obolibrary.org/obo/DOID_0080898
http://identifiers.org/medgen/863932
https://omim.org/entry/616202
Term relations
- hereditary neurological disease
- central nervous system malformation
- congenital nervous system disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation
- has material basis in germline mutation in some BRF1