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Short stature-webbed neck-heart disease syndrome
ORPHA:2865 · Malformation syndrome · Disorder
HPO 表現型（共 7 項）
Frequent (79-30%)(7)
- Abnormal facial shapeHP:0001999
- Abnormal heart morphologyHP:0001627
- Generalized abnormality of skinHP:0011354
- Intellectual disabilityHP:0001249
- Short neckHP:0000470
- Short statureHP:0004322
- Webbed neckHP:0000465