Global Variome shared LOVD

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Phenotype #0000273595 Individual ID 00379741 Associated disease HAE1;HAE2 Phenotype details Homozygous proband and her two homozygous sisters are presenting with a HAE type I phenotype; heterozygous individuals are asymptomatic Diagnosis/Initial - Inheritance Familial, autosomal recessive 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 2021-08-08 21:17:24 +02:00 (CEST) Date last edited N/A

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