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Hyperinsulinism due to INSR deficiency

ORPHA:263458 · Disease · Disorder

HPO 表現型（共 9 項）

Obligate (100%)(1)

  • Hyperinsulinemic hypoglycemiaHP:0000825

Very frequent (99-80%)(4)

  • Abnormal circulating C-peptide concentrationHP:0030794
  • Fasting hyperinsulinemiaHP:0008283
  • HypoglycemiaHP:0001943
  • Recurrent hypoglycemiaHP:0001988

Frequent (79-30%)(2)

  • FatigueHP:0012378
  • SeizureHP:0001250

Occasional (29-5%)(2)

  • ComaHP:0001259
  • Insulin resistanceHP:0000855