Phenotype #0000315744

Individual ID 00424548
Associated disease EDSVASC
Phenotype details Patient positive for aortic rupture, arterial rupture, sigmoid colon perforation, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, hypermobility of small joints, gingival recession/fragility, and early onset of varicose veins. Family history is significant for a son (6 years), easy bruising, spontaneous pneumothorax, thin skin, joint hypermobility, variant positive; daughter (6 years), thin skin, joint hypermobility, variant positive.
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination 28y (28 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 19:38:19 +01:00 (CET)
Date last edited 2024-10-17 11:22:48 +02:00 (CEST)

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