Phenotype #0000158945

Individual ID 00210380
Associated disease GKD
Phenotype details 62y healthy maternal grandfather, never experienced clinical episode of hypoglycaemia; glycerol plasma 5.5mM, urine 32mM, fibroblast 0.1% glycerol incorporation
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset none
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen