Global Variome shared LOVD

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

Phenotype #0000242855 Individual ID 00324286 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 4m 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 2020-12-04 13:50:44 +01:00 (CET) Date last edited N/A

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