Global Variome shared LOVD

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Phenotype #0000354867 Individual ID 00469715 Associated disease HAE7 Diagnosis/Initial - Diagnosis/Definite - Phenotype details HAE-nC1INH with unilateral lower extremity swelling triggered after a dog bite and vaccination. The swelling remained incompletely solved but demonstrated intermittent exacerbations, particularly under stress. The patient also reported two episodes of severe abdominal pain and transient voice changes. Treatment with antihistamines, corticosteroids, herbal medicines, and omalizumab yielded no improvement. Inheritance Unknown Age/Examination - Age/Diagnosis 43y 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 08:42:56 +01:00 (CET) Date last edited 2025-11-19 13:49:53 +01:00 (CET)

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