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Congenital ichthyosiform erythroderma

ORPHA:79394 · Disease · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(5)

  • EctropionHP:0000656
  • ErythrodermaHP:0001019
  • HypohidrosisHP:0000966
  • IchthyosisHP:0008064
  • PruritusHP:0000989

Frequent (79-30%)(7)

  • Abnormal nail morphologyHP:0001597
  • AlopeciaHP:0001596
  • Corneal erosionHP:0200020
  • Failure to thriveHP:0001508
  • Hearing impairmentHP:0000365
  • KeratitisHP:0000491
  • Palmoplantar keratodermaHP:0000982

Occasional (29-5%)(1)

  • Short statureHP:0004322