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Autosomal dominant spastic paraplegia type 9A

ORPHA:447753 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(3)

  • Lower limb hyperreflexiaHP:0002395
  • Spastic gaitHP:0002064
  • Upper limb hyperreflexiaHP:0007350

Frequent (79-30%)(5)

  • Abnormal pyramidal signHP:0007256
  • Abnormality of pain sensationHP:0010832
  • Babinski signHP:0003487
  • Lower limb hypertoniaHP:0006895
  • Pes cavusHP:0001761

Occasional (29-5%)(26)

  • Abnormal cerebellum morphologyHP:0001317
  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal spinal cord dorsal column morphologyHP:0011397
  • AnarthriaHP:0002425
  • Corpus callosum atrophyHP:0007371
  • DementiaHP:0000726
  • Developmental cataractHP:0000519
  • Enlarged cisterna magnaHP:0002280
  • FallsHP:0002527
  • Horizontal nystagmusHP:0000666
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Low back painHP:0003419
  • Lower limb painHP:0012514
  • Memory impairmentHP:0002354
  • Mitral regurgitationHP:0001653
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324
  • PollakisuriaHP:0100515
  • Postural instabilityHP:0002172
  • PsychosisHP:0000709
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Spastic dysarthriaHP:0002464
  • TremorHP:0001337
  • Urinary incontinenceHP:0000020
  • Urinary urgencyHP:0000012