Global Variome shared LOVD

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

Phenotype #0000291471 Individual ID 00398348 Associated disease TAAD Phenotype details (41 m z 3.5), trivial mitral valve regurgitation; arachnodactyly, camptodactyly, kyphoscoliosis; hypertelorism, downslanting palpebral fissures, malar hypoplasia, high palate, retrognatia; skin atrophic scarring; daughter spontaneous pneumothorax, 43y-father sudden death Diagnosis/Initial thoracic aortic aneurysms and dissections Inheritance Unknown Diagnosis/Definite - Age/Examination 60y (60 years) Age/Diagnosis 41y 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 17:10:25 +01:00 (CET)

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