Global Variome shared LOVD

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Phenotype #0000175131 Individual ID 00234867 Associated disease GSD2 Phenotype details no ventilatory support (-HP:0002093); mobility problem (HP:0100022) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: adult onset Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset 40y Phenotype/Onset - Protein - Owner name Pim Pijnappel Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-05-10 13:10:57 +02:00 (CEST) Date last edited N/A

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