Phenotype #0000315750

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424554
Associated disease	EDSVASC
Phenotype details	Patient positive for aortic and arterial dissection, arterial rupture, easy bruising, thin/translucent skin and acrogeria. Family history is significant for a Mother who died at 33 years from arterial rupture, variant positive.
Diagnosis/Initial	38y
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Oumaima Nehaili
Database submission license
Created by	Oumaima Nehaili
Date created	2022-11-20 20:33:49 +01:00 (CET)
Date last edited	2024-10-17 11:33:21 +02:00 (CEST)

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