Global Variome shared LOVD

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Phenotype #0000175556 Individual ID 00235292 Associated disease GSD2 Phenotype details no cardiomyopathy (-HP:0001638); no ventilatory support (-HP:0002093); no respiratory problems (-HP:0002795); mobility problem (HP:0100022); ptosis (HP:0000508) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: childhood onset Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 2y 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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