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Female restricted epilepsy with intellectual disability

Disease definition

Female restricted epilepsy with intellectual disability is a rare X-linked genetic epilepsy syndrome affecting females. The syndrome is characterized by seizures starting in the first years of life and intellectual disability and may resemble Dravet syndrome (see this term). In families with this disease, male carriers are unaffected despite the X-linked inheritance.

ORPHA:101039

  • Synonym(s):
    • EFMR
    • Familial epilepsy and mental retardation limited to females
  • Prevalence: -
  • Inheritance: Unknown 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 300088
  • UMLS: -
  • MeSH: -
  • GARD: 10806
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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