Global Variome shared LOVD

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Phenotype #0000304007 Individual ID 00411992 Associated disease EDSVASC Phenotype details Patient had velvety, smooth, thin skin with visible veins in the hands and feet, acrogeria of the limbs and ecchymosis. Vascular abnormalities were found by means of computed tomography angiogra- phy (CTA). Patient was hospitalized with a complaint of upper abdominal pain and had a history of bowel rupture. Diagnosis/Initial vEDS Inheritance Familial Diagnosis/Definite - Age/Examination 36y (36 years) Age/Diagnosis 36y Age/Onset - Phenotype/Onset - Protein - Owner name Oumaima Nehaili Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Oumaima Nehaili Date created 2022-06-21 03:29:12 +02:00 (CEST) Date last edited 2024-10-17 11:40:41 +02:00 (CEST)

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