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Disease Ontology Browser
NESCAV syndrome (DOID:0070039)
Alliance: disease page
Synonyms: autosomal dominant intellectual disability 9; autosomal dominant mental retardation 9; autosomal dominant non-syndromic intellectual disability 9; MRD9; NESCAVS; neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment
Alt IDs: OMIM:614255, NCI:C133742, UMLS_CUI:C3280283
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.

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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory