Global Variome shared LOVD

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

Phenotype #0000315746 Individual ID 00424550 Associated disease EDSVASC Phenotype details Patient positive for arterial dissection and rupture, easy bruising, thin/translucent skin, characteristic facial features, and spontaneous pneumothorax. Family history is significant for a Mother with no symptoms, variant negative (germline mosaicism suspected); maternal half-brother, easy bruising, hematoma, vascular fragility, variant positive. Diagnosis/Initial 25y Inheritance Familial Diagnosis/Definite - Age/Examination 25y (25 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 19:54:56 +01:00 (CET) Date last edited 2024-10-17 11:25:13 +02:00 (CEST)

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