Global Variome shared LOVD

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Phenotype #0000315994 Individual ID 00424799 Associated disease EDSVASC Phenotype details Positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, talipes equinovarus, and hypermobility of small joints. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 24y (24 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 03:48:11 +01:00 (CET) Date last edited 2025-01-23 20:06:00 +01:00 (CET)

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