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Roussy-Lévy syndrome

ORPHA:3115 · Disease · Disorder

HPO 表現型（共 27 項）

Frequent (79-30%)(21)

  • Acute demyelinating polyneuropathyHP:0007131
  • AreflexiaHP:0001284
  • ClumsinessHP:0002312
  • Decreased motor nerve conduction velocityHP:0003431
  • Distal amyotrophyHP:0003693
  • Gait ataxiaHP:0002066
  • Gait disturbanceHP:0001288
  • Impaired pain sensationHP:0007328
  • Impaired temperature sensationHP:0010829
  • Impaired vibratory sensationHP:0002495
  • KyphoscoliosisHP:0002751
  • Limb ataxiaHP:0002070
  • Lower limb muscle weaknessHP:0007340
  • NystagmusHP:0000639
  • Pes cavusHP:0001761
  • Postural tremorHP:0002174
  • ScoliosisHP:0002650
  • Sensorimotor neuropathyHP:0007141
  • Somatic sensory dysfunctionHP:0003474
  • Talipes equinovarusHP:0001762
  • Unsteady gaitHP:0002317

Occasional (29-5%)(6)

  • Babinski signHP:0003487
  • Frequent fallsHP:0002359
  • Genu valgumHP:0002857
  • Intrinsic hand muscle atrophyHP:0008954
  • Skeletal muscle atrophyHP:0003202
  • Urinary bladder sphincter dysfunctionHP:0002839