Global Variome shared LOVD

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Phenotype #0000175238 Individual ID 00234974 Associated disease GSD2 Phenotype details age onset 20-38y (4)/ asymptomatic (2); age analysis 32-72y; ventilatory support (HP:0002093) (3)/no ventilatory support (-HP:0002093) (3); respiratory problems (HP:0002795) (2)/ no respiratory problems (-HP:0002795) (2)/unknown (2); mobility problem (HP:0100022) (2)/no mobility problem (-HP:0100022) (4) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: Adult (4)/ unknown (2) 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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