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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.
ORPHA:3204Classification level: Disorder
A summary on this disease is available in Deutsch (2007) Français (2007) Italiano (2007) Nederlands (2007)
- Clinical practice guidelines
- Deutsch (2012) - AWMF
- Guidance for genetic testing
- Français (2017, pdf) - ANPGM
: produced/endorsed by FSMR(s)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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