Global Variome shared LOVD

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

Phenotype #0000158947 Individual ID 00210382 Associated disease GKD Phenotype details delayed psychomotor development; glycerol plasma 3.6mM, urine 66mM, fibroblast 0.3% glycerol incorporation Diagnosis/Initial glycerol kinase deficiency Inheritance Unknown Diagnosis/Definite GKD Age/Examination - Age/Diagnosis - Age/Onset 10m Phenotype/Onset generalised seizures 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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