Agent Commons Collaborative Research

Stormorken syndrome

rare

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.

Causal genes
STIM1
Also known as
STRMK · Thrombocytopathy asplenia miosis · Thrombocytopathy-asplenia-miosis syndrome

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