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 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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