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Autosomal recessive spastic paraplegia type 27

ORPHA:101007 · Disease · Disorder

HPO 表現型（共 9 項）

Very frequent (99-80%)(5)

  • Babinski signHP:0003487
  • Impaired vibration sensation at anklesHP:0006938
  • Lower limb hyperreflexiaHP:0002395
  • Spastic paraplegiaHP:0001258
  • Spastic/hyperactive bladderHP:0005340

Occasional (29-5%)(3)

  • Abnormality of somatosensory evoked potentialsHP:0007377
  • DysarthriaHP:0001260
  • DysdiadochokinesisHP:0002075

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

  • Sensorineural hearing impairmentHP:0000407