Phenotype #0000315993

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00424798
Associated disease	EDSVASC
Phenotype details	Positive for carotid-cavernous sinus fistula, easy bruising, thin/translucent skin, characteristic facial features, acrogeria, tendon and muscle rupture and gingival recession. Family history significant for daughter and son variant positive.
Diagnosis/Initial	-
Inheritance	Familial
Diagnosis/Definite	-
Age/Examination	53y (53 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Oumaima Nehaili
Database submission license
Created by	Oumaima Nehaili
Date created	2022-11-22 03:43:09 +01:00 (CET)
Date last edited	2024-10-17 12:20:39 +02:00 (CEST)

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