Global Variome shared LOVD

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Phenotype #0000315745 Individual ID 00424549 Associated disease EDSVASC Phenotype details Patient positive for easy bruising, thin/translucent skin, characteristic facial features, and hypermobility of small joints. Family history is significant fora Father who died at 25 years due to aortic dissection. Diagnosis/Initial 8y Inheritance Familial Diagnosis/Definite - Age/Examination 08y (8 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 19:45:56 +01:00 (CET) Date last edited 2024-10-17 11:19:32 +02:00 (CEST)

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