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Chronic bilirubin encephalopathy

ORPHA:529808 · Clinical syndrome · Disorder

HPO 表現型(共 21 項)

Very frequent (99-80%)(4)

  • Abnormal auditory evoked potentialsHP:0006958
  • Hepatic encephalopathyHP:0002480
  • Neonatal hyperbilirubinemiaHP:0003265
  • Prolonged neonatal jaundiceHP:0006579

Frequent (79-30%)(14)

  • Abnormal conjunctiva morphologyHP:0000502
  • Abnormal thalamic MRI signal intensityHP:0012696
  • Central apneaHP:0002871
  • Cerebral palsyHP:0100021
  • Conjunctival icterusHP:0032106
  • Feeding difficultiesHP:0011968
  • FeverHP:0001945
  • Hemolytic anemiaHP:0001878
  • HypertoniaHP:0001276
  • HypoalbuminemiaHP:0003073
  • Intellectual disabilityHP:0001249
  • KernicterusHP:0001343
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(3)

  • HypernatremiaHP:0003228
  • Neonatal sepsisHP:0040187
  • Visual gaze preferenceHP:0025518