Global Variome shared LOVD

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

Phenotype #0000354871 Individual ID 00469719 Associated disease HAE7 Diagnosis/Initial - Diagnosis/Definite - Phenotype details HAE-nC1INH with recurrent skin swelling primarily involving the extremities and tongue, more frequent following emotional stress and poor sleep. Inheritance Unknown Age/Examination - Age/Diagnosis 59y Age/Onset 29y 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 09:30:34 +01:00 (CET) Date last edited 2025-11-19 14:00:20 +01:00 (CET)

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