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Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

ORPHA:496689 · Disease · Disorder

HPO 表現型（共 22 項）

Frequent (79-30%)(15)

  • Delayed gross motor developmentHP:0002194
  • Difficulty runningHP:0009046
  • Difficulty standingHP:0003698
  • KyphoscoliosisHP:0002751
  • Lower limb amyotrophyHP:0007210
  • Lower limb hyperreflexiaHP:0002395
  • Lower limb spasticityHP:0002061
  • Muscle spasmHP:0003394
  • PainHP:0012531
  • Progressive spastic paraplegiaHP:0007020
  • Proximal upper limb muscle weaknessHP:0008997
  • Talipes equinovarusHP:0001762
  • Tip-toe gaitHP:0030051
  • Tongue atrophyHP:0012473
  • Upper limb amyotrophyHP:0009129

Occasional (29-5%)(4)

  • Babinski signHP:0003487
  • DysphagiaHP:0002015
  • Intellectual disabilityHP:0001249
  • Knee flexion contractureHP:0006380

Excluded (0%)(3)

  • Abnormal circulating creatine kinase activityHP:0040081
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059