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Myotonia permanens

ORPHA:99735 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(3)

  • HypertoniaHP:0001276
  • Muscle spasmHP:0003394
  • MyotoniaHP:0002486

Frequent (79-30%)(1)

  • EMG abnormalityHP:0003457

Occasional (29-5%)(17)

  • Abnormality of the voiceHP:0001608
  • AsthmaHP:0002099
  • Chest painHP:0100749
  • DysphagiaHP:0002015
  • DyspneaHP:0002094
  • EpicanthusHP:0000286
  • Gait disturbanceHP:0001288
  • Generalized muscle hypertrophyHP:0003720
  • HyperlordosisHP:0003307
  • Intellectual disabilityHP:0001249
  • Limitation of joint mobilityHP:0001376
  • Muscle weaknessHP:0001324
  • MyalgiaHP:0003326
  • OphthalmoparesisHP:0000597
  • OphthalmoplegiaHP:0000602
  • Short statureHP:0004322
  • Skeletal muscle hypertrophyHP:0003712