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

Orpha code: 404493OMIM code: 616949

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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