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Charcot-Marie-Tooth disease type 1E

ORPHA:90658 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(6)

  • Decreased nerve conduction velocityHP:0000762
  • Demyelinating peripheral neuropathyHP:0007108
  • Distal lower limb muscle weaknessHP:0009053
  • Distal sensory impairmentHP:0002936
  • Gait disturbanceHP:0001288
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(20)

  • Abnormal pupil morphologyHP:0000615
  • Abnormality of pain sensationHP:0010832
  • AcroparesthesiaHP:0031006
  • Areflexia of lower limbsHP:0002522
  • Calf muscle hypoplasiaHP:0008962
  • Distal lower limb amyotrophyHP:0008944
  • Foot dorsiflexor weaknessHP:0009027
  • Hand muscle atrophyHP:0009130
  • Hand muscle weaknessHP:0030237
  • Hyporeflexia of lower limbsHP:0002600
  • Hyporeflexia of upper limbsHP:0012391
  • Impaired tactile sensationHP:0010830
  • Impaired temperature sensationHP:0010829
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Peroneal muscle atrophyHP:0009049
  • Peroneal muscle weaknessHP:0011727
  • Pes cavusHP:0001761
  • Postural instabilityHP:0002172
  • Slow pupillary light responseHP:0030211
  • Tonic pupilHP:0012074

Occasional (29-5%)(13)

  • AnisocoriaHP:0009916
  • CoughHP:0012735
  • Equinovarus deformityHP:0008110
  • Gait imbalanceHP:0002141
  • Global developmental delayHP:0001263
  • HammertoeHP:0001765
  • Inability to walkHP:0002540
  • Joint contracture of the handHP:0009473
  • Profound sensorineural hearing impairmentHP:0011476
  • Split handHP:0001171
  • Steppage gaitHP:0003376
  • Talipes calcaneovarusHP:0008124
  • TinnitusHP:0000360