Global Variome shared LOVD

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Phenotype #0000361307 Individual ID 00476634 Associated disease NMD Diagnosis/Initial muscular dystrophy Diagnosis/Definite MDDGC2 Phenotype details see paper; ..., hypotonia; generalised weakness; lost ambulation Inheritance Familial, autosomal recessive Age/Examination 1y (1 year) Age/Diagnosis - Age/Onset 1d 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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