Global Variome shared LOVD

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Phenotype #0000354868 Individual ID 00469716 Associated disease HAE7 Diagnosis/Initial - Diagnosis/Definite - Phenotype details HAE-nC1INH with recurrent severe abdominal pain, vomiting, diarrhea, and episodic swelling affecting the wrists and bilateral lower extremities; symptoms persisting for 2–7 days per episode. No improvement with glucocorticoid, but shortened episode duration with icatibant and effective symptom control with lanadelumab. Inheritance Familial Age/Examination - Age/Diagnosis 49y 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 09:02:36 +01:00 (CET) Date last edited 2025-11-19 13:54:00 +01:00 (CET)

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