Orphanet: Transient familial neonatal hyperbilirubinemia

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Disease definition

A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.

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Transient familial neonatal hyperbilirubinemia

ORPHA:2312

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