Global Variome shared LOVD

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

Phenotype #0000175417 Individual ID 00235153 Associated disease GSD2 Phenotype details age onset 6y/23y; age analysis 14y/32y; no ventilatory support (-HP:0002093)/ventilatory support (HP:0002093); respiratory problems (HP:0002795)/respiratory problems (HP:0002795) Diagnosis/Initial glycogen storage disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD-2: Childhood (1)/ Adult (1) 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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