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X-linked Charcot-Marie-Tooth disease type 6

ORPHA:352675 · Disease · Disorder

HPO 表現型（共 16 項）

Very frequent (99-80%)(10)

  • Absent Achilles reflexHP:0003438
  • Decreased nerve conduction velocityHP:0000762
  • Distal lower limb amyotrophyHP:0008944
  • Distal sensory impairmentHP:0002936
  • EMG: axonal abnormalityHP:0003482
  • Gait disturbanceHP:0001288
  • Hand tremorHP:0002378
  • Lower limb muscle weaknessHP:0007340
  • Pes cavusHP:0001761
  • Sensorimotor neuropathyHP:0007141

Frequent (79-30%)(4)

  • Elevated circulating creatine kinase activityHP:0003236
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Steppage gaitHP:0003376
  • Thenar muscle atrophyHP:0003393

Occasional (29-5%)(2)

  • Motor delayHP:0001270
  • Sensorineural hearing impairmentHP:0000407