Global Variome shared LOVD

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Phenotype #0000082503 Individual ID 00104585 Associated disease HYPOPROTHROMBINEMIA Phenotype details see paper; ..., since birth episodes of bleeding ranging from hematemesis, umbilical stump bleed, right-sided subdural hematoma; coagulation tests showed consistently deranged prothrombin time (PT), activated partial thromboplastin time (APTT) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y05m Phenotype/Onset acute intracranial hemorrhage Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-05-18 09:23:42 +02:00 (CEST) Date last edited N/A

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