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GTR Home > Conditions/Phenotypes > Lucey-Driscoll syndrome

Summary

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. [from ORDO]

Available tests

30 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT 1-1, UGT1, UGT1A, UGT1A1
    Summary: UDP glucuronosyltransferase family 1 member A1

Clinical features

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