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Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

ORPHA:137608 · Clinical subtype · Subtype of disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(9)

  • Arteriovenous malformationHP:0100026
  • Excessive wrinkled skinHP:0007392
  • Lower limb asymmetryHP:0100559
  • LymphangiomaHP:0100764
  • PapuleHP:0200034
  • Subcutaneous noduleHP:0001482
  • Upper limb asymmetryHP:0100560
  • Venous insufficiencyHP:0005293
  • Visceral angiomatosisHP:0100761

Frequent (79-30%)(2)

  • HamartomaHP:0010566
  • Reduced bone mineral densityHP:0004349

Occasional (29-5%)(8)

  • Congestive heart failureHP:0001635
  • Hemiplegia/hemiparesisHP:0004374
  • MacrocephalyHP:0000256
  • Neoplasm of the breastHP:0100013
  • Neoplasm of the thyroid glandHP:0100031
  • Ovarian neoplasmHP:0100615
  • Recurrent fracturesHP:0002757
  • TalipesHP:0001883