Global Variome shared LOVD

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Phenotype #0000175439 Individual ID 00235175 Associated disease GSD2 Phenotype details age onset 16y/12y/27y; age analysis 24y/31y/29y; ventilatory support (HP:0002093)/no ventilatory support (-HP:0002093)/ventilatory support (HP:0002093); respiratory problems (HP:0002795)/no respiratory problems (-HP:0002795)/respiratory problems (HP:0002795); unknown/unknown/mobility problem (HP:0100022) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: Childhood (2)/ Adult (1) 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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