Phenotype #0000315745

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424549
Associated disease	EDSVASC
Phenotype details	Patient positive for easy bruising, thin/translucent skin, characteristic facial features, and hypermobility of small joints. Family history is significant fora Father who died at 25 years due to aortic dissection.
Diagnosis/Initial	8y
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Oumaima Nehaili
Database submission license
Created by	Oumaima Nehaili
Date created	2022-11-20 19:45:56 +01:00 (CET)
Date last edited	2024-10-17 11:19:32 +02:00 (CEST)

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