Global Variome shared LOVD

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Phenotype #0000358601 Individual ID 00473806 Associated disease CMS Phenotype details Difficulty neck holding; Ptosis; Mild proximal muscle weakness; Lordosis; Difficulty chewing; High arch palate; Mild facial weakness; EMG-NCV: neuromuscular transmission disorder and myopathy. Diagnosis/Initial congenital myasthenic syndrome Inheritance Unknown Diagnosis/Definite - Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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