Global Variome shared LOVD

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Phenotype #0000355786 Individual ID 00470907 Associated disease HAE Diagnosis/Initial - Diagnosis/Definite - Phenotype details Proband presenting with a HAE phenotype with normal C1-INH: attacks with face edema, macroglossia, edema of upper the airways (in one case of the glottis), edema of the gastrointestinal tract. Inheritance Familial Age/Examination - Age/Diagnosis 74y Age/Onset 12y Phenotype/Onset - Owner name Christian Drouet Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Christian Drouet Date created 2025-12-13 10:53:00 +01:00 (CET) Date last edited 2025-12-17 09:16:05 +01:00 (CET)

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