Global Variome shared LOVD

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Phenotype #0000361327 Individual ID 00476654 Associated disease NMD Diagnosis/Initial congenital myopathy Diagnosis/Definite CMYO2A Phenotype details see paper; ..., hypotonia, delayed motor milestones; generalised weakness; ambulant, climbing stairs with support Inheritance Isolated (sporadic) Age/Examination 12y (12 years) 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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