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 InternationalCreative Commons License
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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