Phenotype #0000158967

Individual ID 00210402
Associated disease GKD
Phenotype details high urine glycerol; glycerol serum 2.5mmol, urine 1750mmol, slightly reduced GK activity
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset seizures, developmental delay
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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