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Charcot-Marie-Tooth disease type 4D

ORPHA:99950 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(4)

  • Decreased amplitude of sensory action potentialsHP:0007078
  • Decreased motor nerve conduction velocityHP:0003431
  • Demyelinating peripheral neuropathyHP:0007108
  • Distal lower limb muscle weaknessHP:0009053

Frequent (79-30%)(6)

  • Abnormal foot morphologyHP:0001760
  • Distal muscle weaknessHP:0002460
  • Lower limb amyotrophyHP:0007210
  • Motor delayHP:0001270
  • Sensorineural hearing impairmentHP:0000407
  • Unsteady gaitHP:0002317

Occasional (29-5%)(12)

  • Distal sensory impairmentHP:0002936
  • Distal upper limb muscle weaknessHP:0008959
  • HammertoeHP:0001765
  • Inability to walkHP:0002540
  • KyphoscoliosisHP:0002751
  • Pes cavusHP:0001761
  • Postural tremorHP:0002174
  • Proximal muscle weaknessHP:0003701
  • SkewfootHP:0032649
  • Somatic sensory dysfunctionHP:0003474
  • Split handHP:0001171
  • Upper limb amyotrophyHP:0009129