Global Variome shared LOVD

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Phenotype #0000337676 Individual ID 00448487 Associated disease HAE1;HAE2 Phenotype details Proband presenting with a HAE type 1 phenotype. Whole gene deletion was associated with a severe course of disease. The patients had early onset of symptoms (from 1 to 5 years of age), developed from 8 to 27 attacks per year with laryngeal phenotype. Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Christian Drouet Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Christian Drouet Date created 2024-03-13 17:01:24 +01:00 (CET) Date last edited N/A

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