Phenotype #0000315755

Individual ID 00424559
Associated disease EDSVASC
Phenotype details Patient positive for aortic dissection, arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, hypermobility of small joints and gingival recession/fragility. Family history is significant for a sister with hx of uterine rupture.
Diagnosis/Initial 48y
Inheritance Familial
Diagnosis/Definite -
Age/Examination 48y (48 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 2022-11-21 00:20:58 +01:00 (CET)
Date last edited 2024-10-17 11:38:58 +02:00 (CEST)

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