Term Name: autosomal recessive spinocerebellar ataxia 23
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 )

Relationships
is a type of: autosomal recessive cerebellar ataxia