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X-linked Charcot-Marie-Tooth disease type 3

ORPHA:101077 · Disease · Disorder

HPO 表現型（共 27 項）

Frequent (79-30%)(16)

  • Abnormal foot morphologyHP:0001760
  • AreflexiaHP:0001284
  • Decreased motor nerve conduction velocityHP:0003431
  • Delayed ability to walkHP:0031936
  • Distal amyotrophyHP:0003693
  • Distal lower limb amyotrophyHP:0008944
  • Equinovarus deformityHP:0008110
  • Foot dorsiflexor weaknessHP:0009027
  • Gait disturbanceHP:0001288
  • Hand muscle weaknessHP:0030237
  • Intrinsic hand muscle atrophyHP:0008954
  • Motor delayHP:0001270
  • Pes cavusHP:0001761
  • Progressive distal muscle weaknessHP:0009063
  • Sensorimotor neuropathyHP:0007141
  • Somatic sensory dysfunctionHP:0003474

Occasional (29-5%)(11)

  • Demyelinating peripheral neuropathyHP:0007108
  • Distal upper limb amyotrophyHP:0007149
  • Hip dysplasiaHP:0001385
  • HyporeflexiaHP:0001265
  • Inability to walkHP:0002540
  • Peripheral axonal neuropathyHP:0003477
  • Pes valgusHP:0008081
  • Proximal lower limb muscle weaknessHP:0008994
  • Restrictive ventilatory defectHP:0002091
  • ScoliosisHP:0002650
  • TremorHP:0001337