Global Variome shared LOVD

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Phenotype #0000360700 Individual ID 00476026 Associated disease CMS Phenotype details details not specified; no correlation clinical diagnosis with genetic diagnosis Diagnosis/Initial congenital myasthenic syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 8y (8 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 2026-04-13 18:16:22 +02:00 (CEST) Date last edited N/A

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