Phenotype #0000315757

Individual ID 00424561
Associated disease EDSVASC
Phenotype details Patient is positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, and hypermobility of small joints. Family history of father with easy bruising.
Diagnosis/Initial 31y
Inheritance Familial
Diagnosis/Definite -
Age/Examination 31y (31 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 01:11:40 +01:00 (CET)
Date last edited 2024-10-17 12:01:38 +02:00 (CEST)

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