chronic bilirubin encephalopathy
Findings
No curated finding names chronic bilirubin encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0035345), read 2026-09-29. CC BY 4.0.
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal auditory evoked potentialsHPOHP:0006958
- Very frequent (80% to 99% of cases)
- Hepatic encephalopathyHPOHP:0002480
- Very frequent (80% to 99% of cases)
- Neonatal hyperbilirubinemiaHPOHP:0003265
- Very frequent (80% to 99% of cases)
- Prolonged neonatal jaundiceHPOHP:0006579
- Very frequent (80% to 99% of cases)
- Abnormal conjunctiva morphologyHPOHP:0000502
- Frequent (30% to 79% of cases)
- Abnormal thalamic MRI signal intensityHPOHP:0012696
- Frequent (30% to 79% of cases)
Show the remaining 9
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- HypoalbuminemiaHPOHP:0003073
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- KernicterusHPOHP:0001343
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: chronic bilirubin encephalopathy
- Also called
- Bilirubin-induced neurological dysfunctionBINDCBEKernicterus spectrum disorderKSD