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Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

ORPHA:2196 · Clinical subtype · Subtype of disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(8)

  • Abnormal circulating calcium-phosphate regulating hormone concentrationHP:0100530
  • Abnormal retinal pigmentationHP:0007703
  • Chorioretinal colobomaHP:0000567
  • Kidney stoneHP:0000787
  • Macular pseudocolobomaHP:0001116
  • MyopiaHP:0000545
  • NephropathyHP:0000112
  • NystagmusHP:0000639

Frequent (79-30%)(2)

  • HematuriaHP:0000790
  • Inguinal herniaHP:0000023

Occasional (29-5%)(1)

  • Umbilical herniaHP:0001537