← 返回搜尋

Spinal arteriovenous metameric syndrome

ORPHA:53721 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(12)

  • Abnormal spinal cord morphologyHP:0002143
  • Abnormality of the vertebral columnHP:0000925
  • Arteriovenous malformationHP:0100026
  • ArthralgiaHP:0002829
  • Bone painHP:0002653
  • HyperreflexiaHP:0001347
  • Nevus flammeusHP:0001052
  • ParaparesisHP:0002385
  • Sensory neuropathyHP:0000763
  • Spinal arteriovenous malformationHP:0002390
  • Urinary bladder sphincter dysfunctionHP:0002839
  • Visceral angiomatosisHP:0100761

Frequent (79-30%)(2)

  • Cutaneous angiolipomasHP:0006773
  • FatigueHP:0012378

Occasional (29-5%)(6)

  • Abnormality of the kidneyHP:0000077
  • AngiokeratomaHP:0001014
  • Congestive heart failureHP:0001635
  • GangreneHP:0100758
  • KyphoscoliosisHP:0002751
  • LymphangiomaHP:0100764