Global Variome shared LOVD

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Phenotype #0000247278 Individual ID 00329081 Associated disease GSD Phenotype details see paper; ..., clinically diagnosed as GSDIa?; 6y-liver transplant; psychomotor retardation, urinary infection Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-02-03 15:44:42 +01:00 (CET) Date last edited N/A

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