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Short stature-delayed bone age due to thyroid hormone metabolism deficiency

ORPHA:171706 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(1)

  • Abnormal circulating enzyme concentration or activityHP:0012379

Frequent (79-30%)(3)

  • Decreased circulating free T3HP:0032210
  • Elevated circulating thyroid-stimulating hormone concentrationHP:0002925
  • Increased circulating T4 concentrationHP:0031506

Occasional (29-5%)(14)

  • Abnormal circulating insulin concentrationHP:0040214
  • Abnormal circulating selenium concentrationHP:0031903
  • Delayed skeletal maturationHP:0002750
  • Distal lower limb muscle weaknessHP:0009053
  • Fasting hypoglycemiaHP:0003162
  • Fatty replacement of skeletal muscleHP:0012548
  • Gowers signHP:0003391
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • ObesityHP:0001513
  • Proximal lower limb muscle weaknessHP:0008994
  • PtosisHP:0000508
  • Short attention spanHP:0000736
  • Short statureHP:0004322