Global Variome shared LOVD

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Phenotype #0000175169 Individual ID 00234905 Associated disease GSD2 Phenotype details age onset 8y/10y/10y; age analysis 23y/36y/33y; no cardiomyopathy (-HP:0001638)/no cardiomyopathy (-HP:0001638)/no cardiomyopathy (-HP:0001638) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: childhood onset Age/Examination - Age/Diagnosis - Age/Onset - 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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