Global Variome shared LOVD

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

Phenotype #0000158944 Individual ID 00210379 Associated disease GKD Phenotype details 1.5y, birth weight 3450g, no hypoglycaemic episodes; glycerol plasma 4.8mM, urine 60mM, fibroblast 0.4% glycerol incorporation Diagnosis/Initial glycerol kinase deficiency Inheritance Unknown Diagnosis/Definite GKD Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-10-16 21:02:19 +02:00 (CEST) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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