Global Variome shared LOVD

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

Phenotype #0000315747 Individual ID 00424551 Associated disease EDSVASC Phenotype details Patient positive for arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, acrogeria, hypermobility of small joints, and gingival recession/fragility. Family history is significant for a Daughter (6 years) who has easy bruising, variant positive. Diagnosis/Initial 39y Inheritance Familial Diagnosis/Definite - Age/Examination 39y (39 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 20:01:42 +01:00 (CET) Date last edited 2024-10-17 11:26:41 +02:00 (CEST)

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