Spinocerebellar ataxia type 29
Engelsk navn: Spinocerebellar ataxia type 29
Engelske synonym: Congenital nonprogressive spinocerebellar ataxia,SCA29
Definisjon
An autosomal dominant cerebellar ataxia type I that is characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability.
Fra Orphanet
ORPHA: 208513
Klassifiseringsnivå: Disorder
ICD-10: G11.0