Global Variome shared LOVD

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

Phenotype #0000357046 Individual ID 00472237 Associated disease LGMDR10;LGMD2J Phenotype details Antenatal onset * Neonatal hypotonia Motor delay * Minicore myopathy * Atrial septal defect * Scoliosis * Mildly elevated creatine kinase * Cardiomyopathy Diagnosis/Initial Congenital myopathy Inheritance Unknown Diagnosis/Definite CMYO5 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-19 16:13:40 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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