Phenotype #0000158943

Individual ID 00210378
Associated disease GKD
Phenotype details single episode hypoglycaemia (birht), small gestational age, birth weight 2450g, facial dysmorphism (square face, frontal bossing, low set mildly dysmorphic ears), hypoplastic right thumb cryptorchidism; glycerol plasma 6.4mM, urine 38mM, fibroblast 0.1% glycerol incorporation
Diagnosis/Initial glycerol kinase deficiency
Inheritance Unknown
Diagnosis/Definite GKD
Age/Examination -
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset hypoglycaemia
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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