Global Variome shared LOVD

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

Phenotype #0000238169 Individual ID 00313846 Associated disease LGMD Phenotype details nomuscle weakness lower extremity; serum CK 1076 U/L Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2L Age/Examination - Age/Diagnosis - Age/Onset 6y Phenotype/Onset - Protein - Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-06 10:37:52 +02:00 (CEST) Date last edited N/A

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