Global Variome shared LOVD

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Phenotype #0000174940 Individual ID 00234562 Associated disease GSD2 Phenotype details age onset 10y/15y; age analysis 19y/20y; no cardiomyopathy (-HP:0001638)/no cardiomyopathy (-HP:0001638); no liver/spleen involvement/no liver/spleen involvement; ventilatory support (HP:0002093) at night/ventilatory support (HP:0002093); respiratory problems (HP:0002795)/respiratory problems (HP:0002795); not wheelchair bound (-HP:0002540)/wheelchair bound (HP:0002540) ; mobility problem (HP:0100022)/mobility problem (HP:0100022) 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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