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Stormorken syndrome
rareStormorken-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.
- Identifiers
- MONDO:0008497 OMIM:185070Orphanet:3204
- Causal genes
- STIM1
- Also known as
- STRMK · Thrombocytopathy asplenia miosis · Thrombocytopathy-asplenia-miosis syndrome
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