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Dyschromatosis universalis hereditaria

ORPHA:241 · Disease · Disorder

HPO 表現型(共 9 項)

Very frequent (99-80%)(4)

  • Hypermelanotic maculeHP:0001034
  • Hypopigmented skin patchesHP:0001053
  • MaculeHP:0012733
  • Spotty hypopigmentationHP:0005590

Frequent (79-30%)(4)

  • Cutaneous photosensitivityHP:0000992
  • FrecklingHP:0001480
  • Hearing impairmentHP:0000365
  • Multiple cafe-au-lait spotsHP:0007565

Occasional (29-5%)(1)

  • Short statureHP:0004322