Term Name: | autosomal recessive spinocerebellar ataxia 23 |
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Synonyms: | autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency, SCAR23 |
Definition: | An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. |
Ontology: | Human Disease [DOID:0111613] ( DOID:0111613 ) |