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Moynahan syndrome

Disease definition

A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.

ORPHA:2574

Classification level: Disorder
  • Synonym(s):
    • Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: G40.4
  • OMIM: 203600
  • UMLS: C0265328
  • MeSH: -
  • GARD: 606
  • MedDRA: -
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