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Harlequin ichthyosis

ORPHA:457 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(7)

  • Congenital ichthyosiform erythrodermaHP:0007431
  • Depressed nasal ridgeHP:0000457
  • EctropionHP:0000656
  • Hearing abnormalityHP:0000364
  • HyperkeratosisHP:0000962
  • IchthyosisHP:0008064
  • Recurrent respiratory infectionsHP:0002205

Frequent (79-30%)(3)

  • EclabionHP:0012472
  • ErythrodermaHP:0001019
  • Limitation of joint mobilityHP:0001376

Occasional (29-5%)(8)

  • CataractHP:0000518
  • DehydrationHP:0001944
  • Foot polydactylyHP:0001829
  • Hand polydactylyHP:0001161
  • Malignant hyperthermiaHP:0002047
  • Respiratory insufficiencyHP:0002093
  • Self-injurious behaviorHP:0100716
  • Sudden cardiac deathHP:0001645