Синдром Сторморкена-Сяастада-Лангслета
ORPHA:3204· ICD-10 D69.8· Stormorken-Sjaastad-Langslet syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- All ages