Phenotype #0000315742

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424546
Associated disease	EDSVASC
Phenotype details	Patient was positive for arterial rupture and spontaneous pneumothorax. Family history significant for Father who died at 30 years due to arterial rupture. Patient died from a rupture of the right internal thoracic artery at age 15.
Diagnosis/Initial	15y
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Oumaima Nehaili
Database submission license
Created by	Oumaima Nehaili
Date created	2022-11-20 19:15:24 +01:00 (CET)
Date last edited	2024-10-17 11:07:44 +02:00 (CEST)

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