Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000325426 Individual ID 00435227 Associated disease EDSCL1 Diagnosis/Initial cEDS Diagnosis/Definite - Phenotype details A 30-year-old female presented to the plastic-surgery clinic with widen atrophic scars on forehead, elbows, knees and pretibial area that had developed since childhood. Physical examination revealed skin hyper extensibility, joint hypermobility, papyraceous scar and easy bruising. Inheritance Unknown Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Nassim Louail Database submission license Creative Commons Attribution 4.0 International Created by Nassim Louail Date created 2023-06-19 03:32:06 +02:00 (CEST) Date last edited 2023-07-21 15:25:25 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.