A rare hereditary ataxia characterized by early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability. There is evidence the disease is caused by homozygous mutation in the TDP2 gene on chromosome 6p22.
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Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3723732015
Spinocerebellar ataxia autosomal recessive type 23
Active
Synonym
false
false
3723733013
SCAR23 - spinocerebellar ataxia autosomal recessive type 23
Active
Synonym
false
false
3723738016
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency