← 返回搜尋

Weismann-Netter syndrome

ORPHA:3344 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(7)

  • Abnormal cortical bone morphologyHP:0003103
  • Abnormal fibula morphologyHP:0002991
  • Abnormal tibia morphologyHP:0002992
  • Bowing of the long bonesHP:0006487
  • Fibular bowingHP:0010502
  • Severe short statureHP:0003510
  • Tibial bowingHP:0002982

Frequent (79-30%)(8)

  • Abnormal femur morphologyHP:0002823
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal vertebral body morphologyHP:0003312
  • Femoral bowingHP:0002980
  • Intellectual disabilityHP:0001249
  • KyphosisHP:0002808
  • ScoliosisHP:0002650
  • Squared iliac bonesHP:0003177

Occasional (29-5%)(5)

  • Abnormal humerus morphologyHP:0031095
  • Abnormal morphology of ulnaHP:0040071
  • Abnormality of the thyroid glandHP:0000820
  • AnemiaHP:0001903
  • Aplasia/Hypoplasia of the radiusHP:0006501