Orphanet: Stormorken Sjaastad Langslet syndrome
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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: -

  A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)

Detailed information

Guidelines

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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