Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000332162 Individual ID 00442815 Associated disease NMD Diagnosis/Initial SEPN1-related myopathy Diagnosis/Definite CMYP3 Phenotype details motor function measurement 20/32 score 0.552; ambulant only with walking aid; respiratory support (predicted forced expiratory volume in first second 0.33,  difference in vital capacity between sitting and supine position -0.35); left ventricular ejection fraction 0.58; QRS fragmentation, incomplete right bundle branch block Inheritance Familial, autosomal recessive Age/Examination 16y (16 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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