Global Variome shared LOVD

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Phenotype #0000175200 Individual ID 00234936 Associated disease GSD2 Phenotype details age onset 2y6m/5y; age analysis 13y/7.8y; no ventilatory support (-HP:0002093)/no ventilatory support (-HP:0002093); FVC in sitting/ supine position 66/54% / 108/104%; not wheelchair bound (-HP:0002540)/not wheelchair bound (-HP:0002540); MRC 84%/MRC 100% 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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