Global Variome shared LOVD

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

Phenotype #0000175194 Individual ID 00234930 Associated disease GSD2 Phenotype details ventilatory support (HP:0002093); respiratory problems (HP:0002795); kyphosis/scoliosis (HP:0010674) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: childhood onset Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 13y 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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