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Crigler-Najjar syndrome

ORPHA:205 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(3)

  • JaundiceHP:0000952
  • Neonatal hyperbilirubinemiaHP:0003265
  • Unconjugated hyperbilirubinemiaHP:0008282

Frequent (79-30%)(2)

  • HypotoniaHP:0001252
  • Poor suckHP:0002033

Occasional (29-5%)(17)

  • Abnormal auditory evoked potentialsHP:0006958
  • Cognitive impairmentHP:0100543
  • ComaHP:0001259
  • DrowsinessHP:0002329
  • Enamel hypoplasiaHP:0006297
  • Hearing impairmentHP:0000365
  • HepatosplenomegalyHP:0001433
  • High-pitched cryHP:0025430
  • Infectious encephalitisHP:0002383
  • KernicterusHP:0001343
  • LethargyHP:0001254
  • Memory impairmentHP:0002354
  • OphthalmoparesisHP:0000597
  • OpisthotonusHP:0002179
  • PruritusHP:0000989
  • SeizureHP:0001250
  • VertigoHP:0002321