Summary Literature (0)

DOID:0050998 - nonprogressive cerebellar ataxia with mental retardation

Disease Ontology Definition:An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.

Synonyms:

Echinobase Genes :


OMIM:

MIM:614756 - cerebellar ataxia, nonprogressive, with mental retardation; canpmr

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee