Global Variome shared LOVD

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

Phenotype #0000174969 Individual ID 00234705 Associated disease GSD2 Phenotype details no ventilatory support (-HP:0002093); no respiratory problems (-HP:0002795); not wheelchair bound (-HP:0002540); mobility problem (HP:0100022) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: adult onset Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 20y 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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