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SHOX-related short stature

ORPHA:314795 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(15)

  • Cubitus valgusHP:0002967
  • Episodic ketoacidosisHP:0005974
  • Forearm undergrowthHP:0009821
  • Genu valgumHP:0002857
  • High palateHP:0000218
  • Lower limb undergrowthHP:0009816
  • Madelung deformityHP:0003067
  • MicrognathiaHP:0000347
  • ScoliosisHP:0002650
  • Short footHP:0001773
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Skeletal muscle hypertrophyHP:0003712
  • Tibial bowingHP:0002982
  • Ulnar radial head dislocationHP:0005856

Frequent (79-30%)(1)

  • ObesityHP:0001513