Phenotype #0000315990

Individual ID 00424795
Associated disease EDSVASC
Phenotype details Positive for thin translucent skin, spontaneous pneumothorax, and hypermobility of small joints. Father died at age 30 from aortic dissection.
Diagnosis/Initial -
Inheritance Familial
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 InternationalCreative Commons License
Created by Oumaima Nehaili
Date created 2022-11-22 03:21:19 +01:00 (CET)
Date last edited 2024-10-17 12:17:08 +02:00 (CEST)

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