Global Variome shared LOVD

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Phenotype #0000306496 Individual ID 00414701 Associated disease EDSVASC Phenotype details High myopia, unilateral bullous retinal detachment, and vitreous hemorrhage was referred for surgery. The patient had a history of colon perforation, muscle and arterial rupture in both lower limbs, and recurrent shoulder joint luxations. Genetic testing revealed a pathogenic mutation in the COL3A1 gene. The patient underwent a 25-gauge three-port pars plana vitrectomy. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 40y (40 years) Age/Diagnosis - 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 2022-08-02 09:02:01 +02:00 (CEST) Date last edited 2022-08-02 15:10:19 +02:00 (CEST)

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