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Spastic paraplegia type 2

ORPHA:99015 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(5)

  • Babinski signHP:0003487
  • HyperreflexiaHP:0001347
  • Muscle weaknessHP:0001324
  • Spastic gaitHP:0002064
  • SpasticityHP:0001257

Frequent (79-30%)(5)

  • Abnormality of extrapyramidal motor functionHP:0002071
  • Bowel incontinenceHP:0002607
  • Intellectual disabilityHP:0001249
  • Optic atrophyHP:0000648
  • Spastic/hyperactive bladderHP:0005340

Occasional (29-5%)(7)

  • AtaxiaHP:0001251
  • DysarthriaHP:0001260
  • Limitation of joint mobilityHP:0001376
  • NystagmusHP:0000639
  • Pulmonary embolismHP:0002204
  • Recurrent respiratory infectionsHP:0002205
  • Sensory neuropathyHP:0000763