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Hereditary neuropathy with liability to pressure palsies

ORPHA:640 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(2)

  • Decreased motor nerve conduction velocityHP:0003431
  • Peripheral neuropathyHP:0009830

Frequent (79-30%)(5)

  • Decreased/absent ankle reflexesHP:0200101
  • Muscle weaknessHP:0001324
  • ParesthesiaHP:0003401
  • ScoliosisHP:0002650
  • Sensorimotor neuropathyHP:0007141

Occasional (29-5%)(11)

  • Abnormality of the voiceHP:0001608
  • Cranial nerve paralysisHP:0006824
  • Distal amyotrophyHP:0003693
  • Exercise-induced myalgiaHP:0003738
  • HyporeflexiaHP:0001265
  • Muscle spasmHP:0003394
  • Pes cavusHP:0001761
  • Respiratory insufficiencyHP:0002093
  • Scapuloperoneal weaknessHP:0003704
  • Sensorineural hearing impairmentHP:0000407
  • Vocal cord paralysisHP:0001605