cerebellar atrophy, visual impairment, and psychomotor retardation Disease Ontology Browser

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Disease Ontology Browser

cerebellar atrophy, visual impairment, and psychomotor retardation (DOID:0081276)
Alliance: disease page
Synonyms: CAVIPMR
Alt IDs: OMIM:616875, ORDO:480898
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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