Global Variome shared LOVD

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Phenotype #0000362746 Individual ID 00478226 Associated disease - Phenotype details axial muscle weakness; ptosis; repiratory failure (ventilation) Diagnosis/Initial respiratory chain deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite CMS5 Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset 1d 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 2026-05-04 14:23:03 +02:00 (CEST) Date last edited N/A

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