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Full schwannomatosis

ORPHA:93921 · Disease · Disorder

HPO 表現型（共 21 項）

Obligate (100%)(1)

  • SchwannomaHP:0100008

Frequent (79-30%)(3)

  • PainHP:0012531
  • Peripheral schwannomaHP:0009593
  • Spinal cord tumorHP:0010302

Occasional (29-5%)(10)

  • CataractHP:0000518
  • Hearing impairmentHP:0000365
  • LipomaHP:0012032
  • Lumbosacral hemangiomaHP:0410275
  • Muscle weaknessHP:0001324
  • NeoplasmHP:0002664
  • ParesthesiaHP:0003401
  • ScoliosisHP:0002650
  • TinnitusHP:0000360
  • Uterine leiomyomaHP:0000131

Very rare (<4-1%)(6)

  • FasciculationsHP:0002380
  • HypoesthesiaHP:0033748
  • MeningiomaHP:0002858
  • Neoplasm of the anterior pituitaryHP:0011750
  • SeizureHP:0001250
  • Weak voiceHP:0001621

Excluded (0%)(1)

  • Bilateral vestibular schwannomaHP:0009589