Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357661 Individual ID 00472866 Associated disease GSD Phenotype details hepatomegaly, elevated liver tests alanine aminotransferase/aspartate aminotransferase Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD9B Age/Examination 7.8y Age/Diagnosis - Age/Onset 3.5y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-02 11:21:24 +01:00 (CET) Date last edited N/A

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