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

Disease definition

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

ORPHA:404493

  • Synonym(s):
    • SCAR23
    • Spinocerebellar ataxia autosomal recessive type 23
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: G11.1
  • OMIM: 616949
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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