Stormorken-Sjaastad-Langslet Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

STIM1, ORAI1, CASQ1

Drugs

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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.