Phenotype #0000315748

Individual ID 00424552
Associated disease EDSVASC
Phenotype details Patient positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, acrogeria, talipes equinovarus and hypermobility of small joints. No family history.
Diagnosis/Initial 32y
Inheritance Familial
Diagnosis/Definite -
Age/Examination 32y (32 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 20:14:44 +01:00 (CET)
Date last edited 2024-10-17 11:28:26 +02:00 (CEST)

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