autosomal dominant cerebellar ataxia, deafness and narcolepsy
cerebellar ataxia type 41
cerebellar ataxia type 42
cerebellar ataxia type 43
cerebellar ataxia type 47
cerebellar ataxia type 48
cerebellar ataxia type 9
dentatorubral-pallidoluysian atrophy
GRID2-related spinocerebellar ataxia
hypomyelinating leukoencephalopathy
Machado-Joseph disease
nonprogressive cerebellar ataxia with mental retardation
Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits
spinocerebellar ataxia 44
spinocerebellar ataxia 45
spinocerebellar ataxia 46
Spinocerebellar Ataxia 49
Spinocerebellar Ataxia 50
An autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Caused by heterozygous mutation in the NPTX1 gene on chromosome 17q25.