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Glycogen storage disease due to muscle phosphofructokinase deficiency

ORPHA:371 · Disease · Disorder

HPO 表現型（共 6 項）

Very frequent (99-80%)(3)

  • AnemiaHP:0001903
  • Increased muscle glycogen contentHP:0009051
  • MyotoniaHP:0002486

Frequent (79-30%)(3)

  • HyperuricemiaHP:0002149
  • Muscle weaknessHP:0001324
  • Skeletal muscle atrophyHP:0003202