Phenotype #0000303491

Individual ID 00411454
Associated disease EDSCL1
Diagnosis/Initial cEDS
Diagnosis/Definite -
Phenotype details soft, doughy and hyperextensible skin and multiple atrophic scars. He reported easy bruis- ing with spontaneous haematomas, but no major vascular complications. Echocardiographic investigations revealed no abnormalities.
Inheritance Familial
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Oumaima Nehaili
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Oumaima Nehaili
Date created 2022-06-14 06:25:55 +02:00 (CEST)
Date last edited 2024-10-17 12:13:57 +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.