Global Variome shared LOVD

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

Phenotype #0000315990 Individual ID 00424795 Associated disease EDSVASC Phenotype details Positive for thin translucent skin, spontaneous pneumothorax, and hypermobility of small joints. Father died at age 30 from aortic dissection. Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 24y (24 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 2022-11-22 03:21:19 +01:00 (CET) Date last edited 2024-10-17 12:17:08 +02:00 (CEST)

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