Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +
Cayman type cerebellar ataxia
cerebellar ataxia, mental retardation and dysequlibrium syndrome +
Charlevoix-Saguenay spastic ataxia
Friedreich ataxia +
Marinesco-Sjogren syndrome
mitochondrial DNA depletion syndrome 7
A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. (DO)