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Full NF2-related schwannomatosis

ORPHA:637 · Disease · Disorder

HPO 表現型（共 47 項）

Very frequent (99-80%)(1)

  • NeuromaHP:0030430

Frequent (79-30%)(11)

  • Abnormality of the eyeHP:0000478
  • Bilateral vestibular schwannomaHP:0009589
  • HyperesthesiaHP:0100963
  • Intracranial meningiomaHP:0100009
  • MeningiomaHP:0002858
  • MyelopathyHP:0002196
  • Peripheral schwannomaHP:0009593
  • Posterior subcapsular cataractHP:0007787
  • Reduced visual acuityHP:0007663
  • Sensorineural hearing impairmentHP:0000407
  • Spinal cord tumorHP:0010302

Occasional (29-5%)(31)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal optic nerve morphologyHP:0000587
  • AmblyopiaHP:0000646
  • BlindnessHP:0000618
  • Brain stem compressionHP:0002512
  • Cortical cataractHP:0100019
  • Cranial nerve paralysisHP:0006824
  • DiplopiaHP:0000651
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • EpendymomaHP:0002888
  • Epiretinal membraneHP:0100014
  • Facial palsyHP:0010628
  • Foot dorsiflexor weaknessHP:0009027
  • HemiparesisHP:0001269
  • HydrocephalusHP:0000238
  • Hyperpigmentation of the skinHP:0000953
  • Memory impairmentHP:0002354
  • MononeuropathyHP:0009831
  • Neoplasm of the skinHP:0008069
  • PolyneuropathyHP:0001271
  • Postural instabilityHP:0002172
  • Retinal hamartomaHP:0009594
  • SeizureHP:0001250
  • Sensory neuropathyHP:0000763
  • Somatic sensory dysfunctionHP:0003474
  • Spinal meningiomaHP:0100010
  • TinnitusHP:0000360
  • Unsteady gaitHP:0002317
  • Visual lossHP:0000572
  • Wrist dropHP:0031189

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

  • AphasiaHP:0002381
  • AstrocytomaHP:0009592
  • GliomaHP:0009733
  • Remnants of the hyaloid vascular systemHP:0007968