Global Variome shared LOVD

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Phenotype #0000297546 Individual ID 00404988 Associated disease GSD2 Phenotype details see paper; ... Diagnosis/Initial limb girdle weakness with early respiratory muscle involvement Inheritance Familial, autosomal recessive Diagnosis/Definite GSD2 Age/Examination 35y (35 years) Age/Diagnosis - Age/Onset 25y 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 2022-03-11 16:44:58 +01:00 (CET) Date last edited N/A

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