Phenotype #0000158966

Individual ID 00210401
Associated disease GKD
Phenotype details 15d-persisten high TG; 4y-developmental dealy; glycerol serum 4.7mmol, urine 3730mmol, almost no GK activity; intellectual disability
Diagnosis/Initial glycerol kinase deficiency, adrenal hypoplasia; mental retardation
Inheritance Unknown
Diagnosis/Definite GKD;AHC;MR
Age/Examination -
Age/Diagnosis -
Age/Onset <14d
Phenotype/Onset failure to thrive, salt wating, convulsions
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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.