Global Variome shared LOVD

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Phenotype #0000315749 Individual ID 00424553 Associated disease EDSVASC Phenotype details Patient positive for arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, hypermobility of small joints and gingival recession/fragility. No family history reported. Diagnosis/Initial 55y Inheritance Unknown Diagnosis/Definite - Age/Examination 55y (55 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 20:24:24 +01:00 (CET) Date last edited 2024-10-17 11:31:26 +02:00 (CEST)

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