DISEASES

Disease-gene associations mined from literature

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 ...