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Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

ORPHA:713 · Disease · Disorder

HPO 表現型（共 21 項）

Frequent (79-30%)(18)

  • Abnormal nervous system physiologyHP:0012638
  • AtaxiaHP:0001251
  • Decreased hemoglobin concentrationHP:0020062
  • Delayed speech and language developmentHP:0000750
  • Exercise-induced muscle fatigueHP:0009020
  • Exercise-induced myalgiaHP:0003738
  • Global developmental delayHP:0001263
  • Hemolytic anemiaHP:0001878
  • HyperbilirubinemiaHP:0002904
  • Intellectual disabilityHP:0001249
  • MigraineHP:0002076
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324
  • MyoglobinuriaHP:0002913
  • MyopathyHP:0003198
  • ReticulocytosisHP:0001923
  • RhabdomyolysisHP:0003201
  • TremorHP:0001337

Occasional (29-5%)(1)

  • Renal insufficiencyHP:0000083

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

  • BlindnessHP:0000618
  • Retinal dystrophyHP:0000556