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Charcot-Marie-Tooth disease type 1B

ORPHA:101082 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(1)

  • Muscle weaknessHP:0001324

Frequent (79-30%)(11)

  • Abnormal pupil morphologyHP:0000615
  • AreflexiaHP:0001284
  • Decreased nerve conduction velocityHP:0000762
  • Elevated circulating creatine kinase activityHP:0003236
  • Hearing impairmentHP:0000365
  • Increased CSF protein concentrationHP:0002922
  • Peripheral axonal neuropathyHP:0003477
  • Peripheral dysmyelinationHP:0003469
  • ScoliosisHP:0002650
  • Skeletal muscle atrophyHP:0003202
  • Skeletal muscle hypertrophyHP:0003712

Occasional (29-5%)(2)

  • Motor delayHP:0001270
  • Somatic sensory dysfunctionHP:0003474