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Hereditary bullous dystrophy, macular type

ORPHA:1867 · Disease · Disorder

HPO 表現型（共 23 項）

Frequent (79-30%)(14)

  • Abnormal blistering of the skinHP:0008066
  • AcrocyanosisHP:0001063
  • AlopeciaHP:0001596
  • Congenital abnormal hair patternHP:0011361
  • Corneal opacityHP:0007957
  • Hyperpigmentation of the skinHP:0000953
  • MicrocephalyHP:0000252
  • Mild intellectual disabilityHP:0001256
  • Nail dystrophyHP:0008404
  • PneumoniaHP:0002090
  • Short fingerHP:0009381
  • Short statureHP:0004322
  • Spotty hypopigmentationHP:0005590
  • Tapered fingerHP:0001182

Occasional (29-5%)(9)

  • Abnormal heart morphologyHP:0001627
  • AtrichiaHP:0500262
  • CataractHP:0000518
  • CryptorchidismHP:0000028
  • Decreased testicular sizeHP:0008734
  • External genital hypoplasiaHP:0003241
  • Growth delayHP:0001510
  • Heart murmurHP:0030148
  • TurricephalyHP:0000262