← 返回搜尋

X-linked Charcot-Marie-Tooth disease type 2

ORPHA:101076 · Disease · Disorder

HPO 表現型（共 26 項）

Frequent (79-30%)(15)

  • AreflexiaHP:0001284
  • Decreased motor nerve conduction velocityHP:0003431
  • Distal lower limb amyotrophyHP:0008944
  • Distal lower limb muscle weaknessHP:0009053
  • Distal sensory impairmentHP:0002936
  • EMG: chronic denervation signsHP:0003444
  • Foot dorsiflexor weaknessHP:0009027
  • Gait disturbanceHP:0001288
  • Hand muscle weaknessHP:0030237
  • Hand tremorHP:0002378
  • Intrinsic hand muscle atrophyHP:0008954
  • Peroneal muscle weaknessHP:0011727
  • Pes cavusHP:0001761
  • Steppage gaitHP:0003376
  • Tibialis anterior muscle atrophyHP:0011399

Occasional (29-5%)(11)

  • Babinski signHP:0003487
  • Clasp-knife signHP:0031866
  • Hyperactive deep tendon reflexesHP:0006801
  • HyperreflexiaHP:0001347
  • HyporeflexiaHP:0001265
  • Intellectual disabilityHP:0001249
  • Optic disc pallorHP:0000543
  • Optic neuropathyHP:0001138
  • Sensorineural hearing impairmentHP:0000407
  • Slow decrease in visual acuityHP:0007924
  • Spastic paraparesisHP:0002313