Human genes for autosomal recessive spinocerebellar ataxia 23
Autosomal recessive spinocerebellar ataxia 23 [DOID:0111613]
An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in TDP2 on chromosome 6p22.3.
Synonyms: autosomal recessive spinocerebellar ataxia 23, DOID:0111613, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency, SCAR23, autosomal recessive cerebellar ataxiaepilepsyintellectual disability syndrome due to TUD deficiency ...