Global Variome shared LOVD

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Phenotype #0000357057 Individual ID 00472248 Associated disease ? Diagnosis/Initial Myopathy with joint contractures Diagnosis/Definite Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 Phenotype details 0003701: Proximal muscle weakness, 0002460: Distal muscle weakness, 0003691: Winged scapula, 0001388: Joint laxity Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-20 11:51:28 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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