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Familial isolated hypoparathyroidism

ORPHA:2238 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(5)

  • Abnormal circulating calcium-phosphate regulating hormone concentrationHP:0100530
  • HypocalcemiaHP:0002901
  • HypoparathyroidismHP:0000829
  • MyopathyHP:0003198
  • SeizureHP:0001250

Frequent (79-30%)(9)

  • Abnormal dental enamel morphologyHP:0000682
  • ArrhythmiaHP:0011675
  • CataractHP:0000518
  • Cerebral calcificationHP:0002514
  • Delayed eruption of teethHP:0000684
  • HyperphosphatemiaHP:0002905
  • Hypocalcemic tetanyHP:0003472
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324

Occasional (29-5%)(5)

  • Cerebellar calcificationsHP:0007352
  • Globus pallidus calcificationHP:0031627
  • LaryngospasmHP:0025425
  • NephropathyHP:0000112
  • Short statureHP:0004322