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DOID:0070039 - NESCAV syndrome
Disease Ontology Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3.
Synonyms: MRD9, NESCAVS, autosomal dominant intellectual disability 9, autosomal dominant mental retardation 9, autosomal dominant non-syndromic intellectual disability 9, neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment,
Xenbase Genes
:
kif1a
| MONDO:0013656 - intellectual disability, autosomal dominant 9 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee