Global Variome shared LOVD

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

Phenotype #0000203442 Individual ID 00265655 Associated disease LGMD Phenotype details LGMD, dysphagia, bulbar weakness; elevated CK (285 U/l); biopsy Myopathic inclusion bodies Diagnosis/Initial LGMD Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 21y (21 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 N/A

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