Phenotype #0000315756

Individual ID 00424560
Associated disease EDSVASC
Phenotype details Patient positive for thin/translucent skin, characteristic facial features, spontaneous pneumothorax and hypermobility of small joints. Family history is not reported.
Diagnosis/Initial 16y
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 16y (16 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 00:33:36 +01:00 (CET)
Date last edited 2024-10-17 11:47:03 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.