Global Variome shared LOVD

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Phenotype #0000158974 Individual ID 00210409 Associated disease GKD Phenotype details born 34w, birth weight 1950g, severe asphyxia, suspected AHX; 5d deceased of circulatory collapse; glycerol plasma 12mmol, urine 31mmol, GK activity 16% Diagnosis/Initial glycerol kinase deficiency, adrenal hypoplasia Inheritance Unknown Diagnosis/Definite GKD;AHC Age/Examination - Age/Diagnosis - Age/Onset 1d Phenotype/Onset small, respiratory distress sysndrome, adrenal glands imbalance 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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