ZFIN Human Disease: cerebellofaciodental syndrome

OBO ID: DOID:0080898

Term Name:	cerebellofaciodental syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER cerebellofaciodental syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BRF1	brf1a brf1b	Cerebellofaciodental syndrome	616202

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None