Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000175089 Individual ID 00234825 Associated disease GSD2 Phenotype details age onset >30y/>30y; age analysis 59y/54y; no cardiomyopathy (-HP:0001638)/no cardiomyopathy (-HP:0001638); ventilatory support (HP:0002093) at night/no ventilatory support (-HP:0002093); VC standing 1.4L/VC standing 2.8L; no mobility problem (-HP:0100022)/no mobility problem (-HP:0100022) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: adult 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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