Phenotype #0000158946

Individual ID 00210381
Associated disease GKD
Phenotype details mild psychomotor retardation, attention deficit disorder; glycerol plasma 1.3mM, urine 47mM, fibroblast 0.2% glycerol incorporation
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset vomiting, ketoacidosis
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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