Global Variome shared LOVD

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Phenotype #0000158977 Individual ID 00210412 Associated disease GKD Phenotype details born full term, birthweight 3730g, normal growth rate/mental development; glycerol serum 3.4-8.0mmol, urinary 128-390, fibroblast GK activity 3% Diagnosis/Initial glycerol kinase deficiency Inheritance Unknown Diagnosis/Definite GKD Age/Examination - Age/Diagnosis - Age/Onset 1y6m Phenotype/Onset seizures, unconscious 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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