Global Variome shared LOVD

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

Phenotype #0000291469 Individual ID 00398346 Associated disease TAAD Phenotype details thoracic aortic aneurysm (40 mm z 5.2), mitral valve prolapse, mild mitral valve regurgitation; joint laxity as child; high palate, retrognatia; local translucency skin; myopia, astigmatism, cataract; recurrent strokes, corckscrew vertebral artery; daughter Marfanoid Diagnosis/Initial thoracic aortic aneurysms and dissections Inheritance Unknown Diagnosis/Definite - Age/Examination 53y (53 years) Age/Diagnosis 18y Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-04 16:50:49 +01:00 (CET) Date last edited 2022-01-04 17:02:23 +01:00 (CET)

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