Phenotype #0000332165

Individual ID 00442818
Associated disease NMD
Diagnosis/Initial SEPN1-related myopathy
Diagnosis/Definite CMYP3
Phenotype details motor function measurement 20/32 score 0.833; ambulant; no respiratory support (predicted forced expiratory volume in first second 0.41,  difference in vital capacity between sitting and supine position -0.30); left ventricular ejection fraction 0.54; global longitudinal strain -0.17.3; QRS fragmentation
Inheritance Familial, autosomal recessive
Age/Examination 21y (21 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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