Global Variome shared LOVD

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Phenotype #0000359719 Individual ID 00474928 Associated disease NMD Diagnosis/Initial Emery-Dreifus muscular dystrophy Diagnosis/Definite EDMD2 Phenotype details see paper; ..., still ambulant Inheritance Familial, autosomal dominant Age/Examination 60y (60 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-31 09:07:29 +02:00 (CEST) Date last edited N/A

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