Phenotype #0000067604

Individual ID 00088098
Associated disease Danon;GSD2B
Phenotype details see paper; 13y-unexplained elevation of serum creatinine kinase, proximal weakness, Gower sign, no exertional
dyspnea, no cardiac murmur, no hepatomegaly, no muscle atrophy,
no hypotonia, normal muscle tone, ...
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 12y
Phenotype/Onset incidentally detected high level liver enzymes (ALT, AST)/total bilirubin
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 2016-11-17 21:57:59 +01:00 (CET)
Date last edited 2016-11-18 17:42:22 +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.