Global Variome shared LOVD

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

Phenotype #0000315754 Individual ID 00424558 Associated disease EDSVASC Phenotype details Patient positive for aortic and arterial dissection, easy bruising, thin/translucent skin, hypermobility of small joints and early onset of varicose veins. Family history significant for a Daughter (37 years) with easy bruising, joint hypermobility, tendon and muscle rupture, variant positive. Diagnosis/Initial 65y Inheritance Familial Diagnosis/Definite - Age/Examination 65y (65 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 2022-11-21 00:13:14 +01:00 (CET) Date last edited 2024-10-17 11:37:16 +02:00 (CEST)

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