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GMPPB-related limb-girdle muscular dystrophy R19

ORPHA:363623 · Disease · Disorder

HPO 表現型（共 25 項）

Frequent (79-30%)(6)

  • Difficulty climbing stairsHP:0003551
  • Elevated circulating creatine kinase activityHP:0003236
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • SeizureHP:0001250

Occasional (29-5%)(19)

  • Axial muscle weaknessHP:0003327
  • CardiomyopathyHP:0001638
  • CataractHP:0000518
  • Cognitive impairmentHP:0100543
  • Dilatation of the ventricular cavityHP:0006698
  • Distal lower limb muscle weaknessHP:0009053
  • Distal upper limb muscle weaknessHP:0008959
  • Easy fatigabilityHP:0003388
  • EMG: decremental response of compound muscle action potential to repetitive nerve stimulationHP:0003403
  • Exercise intoleranceHP:0003546
  • Fatigable weakness of bulbar musclesHP:0030192
  • Lower limb muscle weaknessHP:0007340
  • MicrocephalyHP:0000252
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324
  • Neck muscle weaknessHP:0000467
  • NystagmusHP:0000639
  • Proximal upper limb muscle weaknessHP:0008997
  • Respiratory insufficiencyHP:0002093