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Stormorken-Sjaastad-Langslet syndrome

Disease definition

Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait.

ORPHA:3204

Classification level: Disorder
  • Synonym(s):
    • Stormorken syndrome
    • Thrombocytopathy-asplenia-miosis syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D69.8
  • OMIM: 185070
  • UMLS: C1861451
  • MeSH: -
  • GARD: 5188
  • MedDRA: -

Detailed information

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