Global Variome shared LOVD

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Phenotype #0000158942 Individual ID 00210377 Associated disease GKD Phenotype details 1w-metabolic acidosis; small gestational age, lethargy preceded by fever/vomiting/diarrhoea; 7m-mild convergent strabismus, right inguinal hernia; glycerol plasma 5.2mM, urine 48mM, fibroblast 0.1% glycerol incorporation Diagnosis/Initial glycerol kinase deficiency Inheritance Unknown Diagnosis/Definite GKD Age/Examination - Age/Diagnosis - Age/Onset 20m Phenotype/Onset gastrointestinal symptoms, ketoacidosis 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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