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Stormorken-Sjaastad-Langslet syndrome
ORPHA:3204 · Disease · Disorder
HPO 表現型（共 12 項）
Very frequent (99-80%)(12)
- Abnormal speech patternHP:0002167
- Abnormality of coagulationHP:0001928
- Abnormality of the musculatureHP:0003011
- Abnormality of thrombocytesHP:0001872
- AnemiaHP:0001903
- AspleniaHP:0001746
- Deeply set eyeHP:0000490
- High foreheadHP:0000348
- IchthyosisHP:0008064
- MiosisHP:0000616
- PurpuraHP:0000979
- Short statureHP:0004322