Global Variome shared LOVD

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Phenotype #0000068369 Individual ID 00088965 Associated disease Danon;GSD2B Phenotype details see paper; cardiomyopathy, mental retardation, myopathy, vacuolar myopathy without acid a-glucosidase deficiency, diffuse chorio-capillary ocular atrophy, successful heart transplantation, ... Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - 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 2016-11-26 22:13:17 +01:00 (CET) Date last edited N/A

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