Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

Orpha code: 404493OMIM code: 616949

Definition

A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

Disease data
Classification

Disease

Synonyms
SCAR23
Spinocerebellar ataxia autosomal recessive type 23
SCAR23
Spinocerebellar ataxia autosomal recessive type 23
ORPHA code
404493
OMIM code
616949
ICD10 code
G11.1
ICD11 code
-

No additional description.

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