Global Variome shared LOVD

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

Phenotype #0000230387 Individual ID 00303310 Associated disease MFS Phenotype details Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634) Diagnosis/Initial Marfan syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite MFS Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Katta M Girisha Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-04 16:44:02 +02:00 (CEST) Date last edited N/A

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