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Lymphedema-distichiasis syndrome

ORPHA:33001 · Malformation syndrome · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(5)

  • ConjunctivitisHP:0000509
  • Corneal erosionHP:0200020
  • DistichiasisHP:0009743
  • PhotophobiaHP:0000613
  • Predominantly lower limb lymphedemaHP:0003550

Frequent (79-30%)(5)

  • CataractHP:0000518
  • EctropionHP:0000656
  • Muscle weaknessHP:0001324
  • PtosisHP:0000508
  • Varicose veinsHP:0002619

Occasional (29-5%)(16)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of the pulmonary vasculatureHP:0004930
  • ArrhythmiaHP:0011675
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • Diabetes mellitusHP:0000819
  • FibrosarcomaHP:0100244
  • GlomerulopathyHP:0100820
  • Patent ductus arteriosusHP:0001643
  • ProteinuriaHP:0000093
  • Recurrent skin infectionsHP:0001581
  • Recurrent urinary tract infectionsHP:0000010
  • Renal duplicationHP:0000075
  • Spinal arachnoid cystHP:0009745
  • Tubulointerstitial nephritisHP:0001970
  • Webbed neckHP:0000465