Global Variome shared LOVD

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Phenotype #0000326603 Individual ID 00436424 Associated disease F12D Phenotype details Homozygous proband presenting with significantly prolonged activated partial thromboplastin time (APTT), an extremely reduced FXII activity (FXII:C) and antigenic FXII (FXII:Ag). Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 51y 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 2023-09-15 14:24:20 +02:00 (CEST) Date last edited 2023-09-15 14:32:06 +02:00 (CEST)

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