Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000315750 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 Creative Commons Attribution-ShareAlike 4.0 International 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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