Global Variome shared LOVD

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

Phenotype #0000153620 Individual ID 00205439 Associated disease LGMD1 Phenotype details proximal leg weakness with waddling gait, Gower’s maneuver; elevated serum creatine phosphokinase (HP:0003236) 233; still walking >35y Diagnosis/Initial limb-girdle muscular dystrophy, autosomal dominant Inheritance Familial, autosomal dominant Diagnosis/Definite LGMD-1E Age/Examination - Age/Diagnosis - Age/Onset 35y Phenotype/Onset fatigue, trouble climbing stairs/rising from sitting position Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2012-04-02 22:51:22 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.