Global Variome shared LOVD

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Phenotype #0000359733 Individual ID 00474942 Associated disease NMD Diagnosis/Initial muscular dystrophy Diagnosis/Definite - Phenotype details see paper; ..., deceased; disease early severe; never walked; congenital contracture torticolis; hip dislocation; scoliosis, kyphosis Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - 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 16:36:01 +02:00 (CEST) Date last edited N/A

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