Global Variome shared LOVD

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

Phenotype #0000238336 Individual ID 00314548 Associated disease LGMD Phenotype details 15y-loss ambulation; raised CPK (3,985); winging scapulae; lordosis; serum CK 2888-7,120 (U/L); EMG myopathic features Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 12y 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 2020-10-12 17:29:43 +02:00 (CEST) Date last edited N/A

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