Global Variome shared LOVD

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

Phenotype #0000315741 Individual ID 00424545 Associated disease EDSVASC Phenotype details Patient is positive for arterial rupture, easy bruising, thin/translucent skin, spontaneous pneumothorax, hypermobility of small joints, and early onset of varicose veins. Family history is significant for Father who died from sudden death after chest trauma. 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 19:06:26 +01:00 (CET) Date last edited 2025-01-23 20:03:20 +01:00 (CET)

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