Global Variome shared LOVD

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Phenotype #0000361311 Individual ID 00476638 Associated disease NMD Diagnosis/Initial Bethlem myopathy Diagnosis/Definite BTHLM1A Phenotype details see paper; ..., lower limb muscle weakness; proximal weakness; ambulant Inheritance Familial, autosomal dominant Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 4y 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 2026-04-14 16:07:20 +02:00 (CEST) Date last edited N/A

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