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Glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA:364 · Disease · Disorder

HPO 表現型（共 11 項）

Very frequent (99-80%)(10)

  • Cognitive impairmentHP:0100543
  • Full cheeksHP:0000293
  • HyperlipidemiaHP:0003077
  • HyperuricemiaHP:0002149
  • HypoglycemiaHP:0001943
  • HypotoniaHP:0001252
  • Recurrent infectionsHP:0002719
  • Recurrent respiratory infectionsHP:0002205
  • SeizureHP:0001250
  • Short statureHP:0004322

Occasional (29-5%)(1)

  • XanthomatosisHP:0000991