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Parana hard skin syndrome

ORPHA:2812 · Disease · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(4)

  • Generalized hyperpigmentationHP:0007440
  • Growth delayHP:0001510
  • Restricted chest movementHP:0006596
  • Thickened skinHP:0001072

Frequent (79-30%)(2)

  • Respiratory insufficiencyHP:0002093
  • Tapered fingerHP:0001182

Occasional (29-5%)(6)

  • Generalized hirsutismHP:0002230
  • HyperkeratosisHP:0000962
  • Pectus carinatumHP:0000768
  • Round faceHP:0000311
  • Short statureHP:0004322
  • Wide intermamillary distanceHP:0006610