Global Variome shared LOVD

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Phenotype #0000175271 Individual ID 00235007 Associated disease GSD2 Phenotype details age onset 20y/19y/17y; age analysis 33y/35y/36y; no cardiomyopathy (-HP:0001638)/no cardiomyopathy (-HP:0001638)/no cardiomyopathy (-HP:0001638); no liver/spleen involvement/no liver/spleen involvement/no liver/spleen involvement; no ventilatory support (-HP:0002093)/no ventilatory support (-HP:0002093)/no ventilatory support (-HP:0002093); no respiratory problems (-HP:0002795)/no respiratory problems (-HP:0002795)/no respiratory problems (-HP:0002795); not wheelchair bound (-HP:0002540)/not wheelchair bound (-HP:0002540)/not wheelchair bound (-HP:0002540); mobility problem (HP:0100022)/mobility problem (HP:0100022)/mobility problem (HP:0100022) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: Childhood (1)/ Adult (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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