nonprogressive cerebellar ataxia with mental retardation (DOID:0050998)
Alliance: disease page
Alt IDs: OMIM:614756
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.