Global Variome shared LOVD

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

Phenotype #0000278437 Individual ID 00384653 Associated disease HAE3 Phenotype details Female proband fulfills the following medical criteria for diagnosing HAEnCIINH, with recurrent swellings of the skin, abdominal pain attacks, tongue swellings or laryngeal attacks; absence of urticaria; family history positive for angioedema, and normal C1-INH function and concentration in plasma 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 2021-10-05 10:58:49 +02:00 (CEST) Date last edited 2021-10-05 14:18:03 +02:00 (CEST)

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