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

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

Disease 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.

ORPHA:404493

Classification level: Disorder

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

ORPHA:404493

A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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