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Glycogen storage disease due to hepatic glycogen synthase deficiency

ORPHA:2089 · Disease · Disorder

HPO 表現型（共 14 項）

Frequent (79-30%)(6)

  • GlycosuriaHP:0003076
  • IrritabilityHP:0000737
  • KetonuriaHP:0002919
  • KetosisHP:0001946
  • Ketotic hypoglycemiaHP:0012734
  • Postprandial hyperglycemiaHP:0011998

Occasional (29-5%)(8)

  • Abnormality of the gastrointestinal tractHP:0011024
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • HyperlipidemiaHP:0003077
  • LethargyHP:0001254
  • SeizureHP:0001250
  • Short statureHP:0004322