Global Variome shared LOVD

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Phenotype #0000357041 Individual ID 00472232 Associated disease CSS11 Diagnosis/Initial Congenital myopathy Diagnosis/Definite Coffin-Siris syndrome Phenotype details Metabolic myopathy Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Camille Verebi Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Camille Verebi Date created 2026-01-19 15:42:19 +01:00 (CET) Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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