Phenotype #0000332171

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00442824
Associated disease	NMD
Diagnosis/Initial	SEPN1-related myopathy
Diagnosis/Definite	CMYP3
Phenotype details	motor function measurement 20/32 score 0.750; ambulant; no respiratory support (predicted forced expiratory volume in first second 0.36, difference in vital capacity between sitting and supine position -0.24); QRS fragmentation
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission 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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