Global Variome shared LOVD

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Phenotype #0000319380 Individual ID 00428476 Associated disease WND Phenotype details see paper; ..., high fever, elevated liver transaminase levels; elevated copper levels, percutaneous liver biopsy subtle portal inflammation, few necrotic hepatocytes, focal steatosis Diagnosis/Initial Wilson disease Inheritance Familial, autosomal recessive Diagnosis/Definite WND Age/Examination 03y (3 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset fever Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-01-04 11:08:57 +01:00 (CET) Date last edited N/A

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