Global Variome shared LOVD

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

Phenotype #0000357257 Individual ID 00472447 Associated disease metabolic disease Phenotype details hepatomegaly (HP:0002240); fasting hypoglycemia (HP:0003162), ketonuria (HP:0002919); elevated circulating hepatic transaminase concentration (HP:0002910); elevated circulating creatine kinase concentration (HP:0003236); ventricular septal hypertrophy (HP:0005144) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD3 Age/Examination 19y (19 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 2026-02-16 15:46:49 +01:00 (CET) Date last edited N/A

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