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Madras motor neuron disease

ORPHA:137867 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(2)

  • Bulbar palsyHP:0001283
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(6)

  • Babinski signHP:0003487
  • Distal amyotrophyHP:0003693
  • Distal muscle weaknessHP:0002460
  • Hyperactive deep tendon reflexesHP:0006801
  • Limb fasciculationsHP:0007289
  • Weak voiceHP:0001621

Occasional (29-5%)(7)

  • Abnormal cerebellum morphologyHP:0001317
  • Diminished deep tendon reflexHP:0001315
  • DysphagiaHP:0002015
  • Optic atrophyHP:0000648
  • SchizophreniaHP:0100753
  • TinnitusHP:0000360
  • Visual impairmentHP:0000505

Very rare (<4-1%)(2)

  • Facial palsyHP:0010628
  • Reduced visual acuityHP:0007663