Global Variome shared LOVD

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

Phenotype #0000354880 Individual ID 00469727 Associated disease HAE6 Diagnosis/Initial - Diagnosis/Definite - Phenotype details HAE-nC1INH with recurrent swelling with blisters for over 7y, along with irregular episodes of pharyngeal edema and two emergency room visits for dyspnea within the past 3 years. Inheritance Unknown Age/Examination - Age/Diagnosis 70y Age/Onset - Phenotype/Onset - Owner name Christian Drouet Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Christian Drouet Date created 2025-11-19 14:57:24 +01:00 (CET) Date last edited 2025-11-21 14:53:28 +01:00 (CET)

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