Global Variome shared LOVD

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

Phenotype #0000051339 Individual ID 00065232 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details 1x muscle weakness (HP:0001324) paraspinal muscles, muscle biopsy dystrophic pattern (axial myopathy); 2x hyperCKemia (HP:0003236) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-05-23 21:16:18 +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.