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Congenital glucokinase-related hyperinsulinism

ORPHA:79299 · Disease · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(5)

  • Abnormal circulating C-peptide concentrationHP:0030794
  • Fasting hyperinsulinemiaHP:0008283
  • Hyperinsulinemic hypoglycemiaHP:0000825
  • Hypoketotic hypoglycemiaHP:0001985
  • Recurrent hypoglycemiaHP:0001988

Frequent (79-30%)(4)

  • FatigueHP:0012378
  • Hand tremorHP:0002378
  • Muscle weaknessHP:0001324
  • SeizureHP:0001250

Occasional (29-5%)(2)

  • ComaHP:0001259
  • Type II diabetes mellitusHP:0005978

Very rare (<4-1%)(2)

  • Abnormal nervous system physiologyHP:0012638
  • Abnormality of the autonomic nervous systemHP:0002270