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Giant axonal neuropathy

ORPHA:643 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(9)

  • Abnormal Achilles tendon morphologyHP:0005109
  • AreflexiaHP:0001284
  • CNS hypomyelinationHP:0003429
  • Diffuse axonal swellingHP:0003405
  • Gait disturbanceHP:0001288
  • Generalized hypotoniaHP:0001290
  • Joint hypermobilityHP:0001382
  • Pili canaliculiHP:0002235
  • Proximal muscle weaknessHP:0003701

Frequent (79-30%)(12)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal hand morphologyHP:0005922
  • Distal muscle weaknessHP:0002460
  • Distal sensory impairmentHP:0002936
  • Facial palsyHP:0010628
  • Intellectual disabilityHP:0001249
  • Pes cavusHP:0001761
  • ScoliosisHP:0002650
  • SpasticityHP:0001257
  • Talipes equinovarusHP:0001762
  • Unsteady gaitHP:0002317
  • Woolly hairHP:0002224

Occasional (29-5%)(5)

  • Abnormal pituitary gland morphologyHP:0012503
  • Babinski signHP:0003487
  • FallsHP:0002527
  • Genu valgumHP:0002857
  • Limb muscle weaknessHP:0003690