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X-linked Charcot-Marie-Tooth disease type 4

ORPHA:101078 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(7)

  • AreflexiaHP:0001284
  • Decreased nerve conduction velocityHP:0000762
  • Distal muscle weaknessHP:0002460
  • Pes cavusHP:0001761
  • Sensorimotor neuropathyHP:0007141
  • Sensory neuropathyHP:0000763
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(5)

  • Hearing impairmentHP:0000365
  • Impaired pain sensationHP:0007328
  • Intellectual disabilityHP:0001249
  • KyphosisHP:0002808
  • ScoliosisHP:0002650

Occasional (29-5%)(4)

  • AtaxiaHP:0001251
  • Gait disturbanceHP:0001288
  • Sleep disturbanceHP:0002360
  • TremorHP:0001337