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X-linked Charcot-Marie-Tooth disease type 5

ORPHA:99014 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(9)

  • Abnormal nerve conduction velocityHP:0040129
  • AreflexiaHP:0001284
  • Hearing impairmentHP:0000365
  • Muscle weaknessHP:0001324
  • Optic atrophyHP:0000648
  • Peripheral neuropathyHP:0009830
  • Pes cavusHP:0001761
  • Sensory neuropathyHP:0000763
  • Skeletal muscle hypertrophyHP:0003712

Frequent (79-30%)(1)

  • Impaired pain sensationHP:0007328

Occasional (29-5%)(9)

  • AtaxiaHP:0001251
  • DysarthriaHP:0001260
  • Excessive daytime somnolenceHP:0001262
  • Gait disturbanceHP:0001288
  • KyphosisHP:0002808
  • Language impairmentHP:0002463
  • ParaparesisHP:0002385
  • ScoliosisHP:0002650
  • TremorHP:0001337