Global Variome shared LOVD

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

Phenotype #0000304887 Individual ID 00412901 Associated disease PKKD Phenotype details Prolonged aPTT without any history of bleeding symptoms: 96 s (reference range: 24–36 s); the family history negative for bleeding or thrombotic events. Normal prothrombin time and thrombin time. Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination 14y (14 years) 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 2022-07-06 15:58:58 +02:00 (CEST) Date last edited 2022-07-07 09:56:04 +02:00 (CEST)

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