Orphanet: X linked spasticity intellectual disability epilepsy syndrome

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X-linked spasticity-intellectual disability-epilepsy syndrome

Disease definition

This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G25.3
  • OMIM: 308350
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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