Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000203436 Individual ID 00265649 Associated disease LGMD Phenotype details LGMD, distal more than proximal; elevated CK (8500 U/l); biopsy Muscular dystrophy, normal IHC Diagnosis/Initial LGMD Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-09-30 11:53:15 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.