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Charcot-Marie-Tooth disease type 4B2

ORPHA:99956 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(9)

  • Abnormal foot morphologyHP:0001760
  • Areflexia of lower limbsHP:0002522
  • Decreased distal sensory nerve action potentialHP:0007230
  • Distal lower limb muscle weaknessHP:0009053
  • Distal upper limb muscle weaknessHP:0008959
  • Gait disturbanceHP:0001288
  • Lower limb muscle weaknessHP:0007340
  • Myelin outfoldingsHP:0004336
  • Poor fine motor coordinationHP:0007010

Frequent (79-30%)(9)

  • Areflexia of upper limbsHP:0012046
  • Distal sensory impairmentHP:0002936
  • DysphoniaHP:0001618
  • GlaucomaHP:0000501
  • KyphoscoliosisHP:0002751
  • Pes cavusHP:0001761
  • Proximal lower limb muscle weaknessHP:0008994
  • ScoliosisHP:0002650
  • Vocal cord paralysisHP:0001605

Occasional (29-5%)(22)

  • Autistic behaviorHP:0000729
  • BuphthalmosHP:0000557
  • CataractHP:0000518
  • Developmental glaucomaHP:0001087
  • Hand muscle weaknessHP:0030237
  • Inability to walkHP:0002540
  • Motor delayHP:0001270
  • Optic atrophyHP:0000648
  • ParesthesiaHP:0003401
  • Penetrating foot ulcersHP:0001026
  • Pes planusHP:0001763
  • Proximal upper limb muscle weaknessHP:0008997
  • PtosisHP:0000508
  • Reduced vital capacityHP:0002792
  • Respiratory insufficiencyHP:0002093
  • Sensorineural hearing impairmentHP:0000407
  • Specific learning disabilityHP:0001328
  • Tip-toe gaitHP:0030051
  • Tongue atrophyHP:0012473
  • Tongue muscle weaknessHP:0000183
  • TremorHP:0001337
  • Weakness of facial musculatureHP:0030319