Phenotype #0000315752

Individual ID 00424556
Associated disease EDSVASC
Phenotype details Patient positive for arterial dissection, easy bruising, thin/translucent skin, characteristic facial features, acrogeria and hypermobility of small joints. Family history is significant for a Mother with easy bruising, pulmonary valve stenosis, meniscus injury, variant positive.
Diagnosis/Initial 30y
Inheritance Familial
Diagnosis/Definite -
Age/Examination 30y (30 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Oumaima Nehaili
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Oumaima Nehaili
Date created 2022-11-20 21:00:27 +01:00 (CET)
Date last edited 2024-10-17 11:35:55 +02:00 (CEST)

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