Global Variome shared LOVD

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

Phenotype #0000315987 Individual ID 00424792 Associated disease EDSVASC Phenotype details Positive for arterial rupture, easy bruising, spontaneous pneumothorax, characteristic facial features, acrogeria, talipes equinovarus, hypermobility of small joints. FH significant for Son (14y) variant positive Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 43y (43 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 02:57:09 +01:00 (CET) Date last edited 2024-10-17 12:05:21 +02:00 (CEST)

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