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DPM3-CDG

ORPHA:263494 · Disease · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(1)

  • Decreased sialylation of O-linked protein glycosylationHP:0012363

Frequent (79-30%)(14)

  • Babinski signHP:0003487
  • Calf muscle hypertrophyHP:0008981
  • Chest painHP:0100749
  • Dilated cardiomyopathyHP:0001644
  • Diminished deep tendon reflexHP:0001315
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated creatine kinase after exerciseHP:0008331
  • Muscle weaknessHP:0001324
  • Muscular dystrophyHP:0003560
  • Pelvic girdle muscle weaknessHP:0003749
  • Pes planusHP:0001763
  • Profound intellectual disabilityHP:0002187
  • Rimmed vacuolesHP:0003805
  • Stroke-like episodeHP:0002401