ZFIN Human Disease: cerebellar atrophy, visual impairment, and psychomotor retardation

OBO ID: DOID:0081276

OBO ID: DOID:0081276

Term Name:	cerebellar atrophy, visual impairment, and psychomotor retardation	Search Ontology:
Synonyms:	CAVIPMR
Definition:	A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. (4)
References:	OMIM:616875 ORDO:480898
Ontology:	Human Disease ( DOID:0081276 )

Relationships

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

OTHER cerebellar atrophy, visual impairment, and psychomotor retardation PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EMC1	emc1	Cerebellar atrophy, visual impairment, and psychomotor retardation	616875

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None