Global Variome shared LOVD

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Phenotype #0000359759 Individual ID 00474968 Associated disease NMD Diagnosis/Initial muscular dystrophy Diagnosis/Definite - Phenotype details see paper; ..., disease moderate progressive; <24m-walk; walking indoors; no congenital contracture torticolis; no hip dislocation; rigid spine Inheritance Familial, autosomal recessive Age/Examination 11y (11 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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