← 返回搜尋

Spastic paraplegia type 7

ORPHA:99013 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(1)

  • Spastic gaitHP:0002064

Frequent (79-30%)(18)

  • Abnormal mitochondrial morphologyHP:0008322
  • Abnormal pyramidal signHP:0007256
  • Abnormality of mental functionHP:0011446
  • Attention deficit hyperactivity disorderHP:0007018
  • Babinski signHP:0003487
  • Cerebellar atrophyHP:0001272
  • Hypernasal speechHP:0001611
  • Impaired vibration sensation in the lower limbsHP:0002166
  • Lower limb hyperreflexiaHP:0002395
  • Lower limb hypertoniaHP:0006895
  • Lower limb muscle weaknessHP:0007340
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Ragged-red muscle fibersHP:0003200
  • Slowed slurred speechHP:0007164
  • Somatic sensory dysfunctionHP:0003474
  • Supranuclear gaze palsyHP:0000605
  • Urinary urgencyHP:0000012

Occasional (29-5%)(7)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Cerebral cortical atrophyHP:0002120
  • DysarthriaHP:0001260
  • Optic disc pallorHP:0000543
  • Pes cavusHP:0001761
  • ScoliosisHP:0002650
  • Upper limb muscle weaknessHP:0003484

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

  • DysphagiaHP:0002015
  • Lower limb painHP:0012514
  • Memory impairmentHP:0002354
  • Specific learning disabilityHP:0001328