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Isaacs syndrome

ORPHA:84142 · Disease · Disorder

HPO 表現型（共 13 項）

Frequent (79-30%)(11)

  • Anti-CASPR2HP:5000005
  • Calf muscle hypertrophyHP:0008981
  • EEG abnormalityHP:0002353
  • EMG: myokymic dischargesHP:0100288
  • FasciculationsHP:0002380
  • HyperhidrosisHP:0000975
  • Muscle fibrillationHP:0010546
  • Muscle spasmHP:0003394
  • Muscle stiffnessHP:0003552
  • MyokymiaHP:0002411
  • Weight lossHP:0001824

Occasional (29-5%)(1)

  • Distal sensory impairmentHP:0002936

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

  • Muscle weaknessHP:0001324