Global Variome shared LOVD

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Phenotype #0000357585 Individual ID 00472790 Associated disease GSD Phenotype details see paper; ..., 3y-liver biopsy nlarged hepatocytes with glycogenated cytoplasm, extensive bridging fibrosis, early nodule formation; hepatomegaly, no focal lesions Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD9C Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - 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 2026-02-28 11:19:09 +01:00 (CET) Date last edited N/A

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