Global Variome shared LOVD

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Phenotype #0000357012 Individual ID 00472203 Associated disease CMS20 Phenotype details Laryngeal dystonia, Laryngospasm, Involuntary movements, Central hypotonia Diagnosis/Initial Congenital myastenic syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CMS20 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-15 16:20:35 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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