Global Variome shared LOVD

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Phenotype #0000155137 Individual ID 00207366 Associated disease GSD Phenotype details age onset 32y/31y/43y ; ventilation support (HP:0004887) +/-/-; respiratory problems (HP:0002093) (3); able to walk (-HP:0002540) (3); abnormality of movement(HP:0100022) +/+/- Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2, Adult Age/Examination 44y-46y Age/Diagnosis - Age/Onset 31y-43y 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 2018-05-05 12:55:31 +02:00 (CEST) Date last edited N/A

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