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Phakomatosis pigmentovascularis

ORPHA:2875 · Disease · Disorder

HPO 表現型（共 14 項）

Very frequent (99-80%)(7)

  • Arteriovenous malformationHP:0100026
  • Cerebral cortical atrophyHP:0002120
  • Generalized hyperpigmentationHP:0007440
  • Hypopigmented skin patchesHP:0001053
  • Nevus flammeusHP:0001052
  • ParesthesiaHP:0003401
  • Reduced bone mineral densityHP:0004349

Frequent (79-30%)(5)

  • Cerebral calcificationHP:0002514
  • Cognitive impairmentHP:0100543
  • EEG abnormalityHP:0002353
  • GlaucomaHP:0000501
  • SeizureHP:0001250

Occasional (29-5%)(2)

  • Blue scleraeHP:0000592
  • Facial asymmetryHP:0000324