Global Variome shared LOVD

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Phenotype #0000332166 Individual ID 00442819 Associated disease NMD Diagnosis/Initial SEPN1-related myopathy Diagnosis/Definite CMYP3 Phenotype details motor function measurement 20/32 score 0.917; ambulant; respiratory support (predicted forced expiratory volume in first second 0.72,  difference in vital capacity between sitting and supine position -0.5); left ventricular ejection fraction 0.69; global longitudinal strain -0.23.2; Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-23 22:55:55 +01:00 (CET) Date last edited N/A

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