Global Variome shared LOVD

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

Phenotype #0000296457 Individual ID 00403752 Associated disease BSS Inheritance Familial, autosomal recessive Diagnosis/Initial macrothrombocytopenia Age/Examination - Diagnosis/Definite BSS Age/Diagnosis - Age/Onset - Phenotype/Onset ecchymosis, bleeding after cesarean section (ISTH-BAT=6); 72x109/L platelets; MPV=18.7fL Phenotype details brother: BSS carrier; daughter and sister with macrothrombocytopenia, and bleeding symptoms Protein GPIba Owner name Adriana Ines Woods Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Adriana Ines Woods Date created 2022-02-21 15:27:02 +01:00 (CET) Date last edited 2022-02-25 09:11:54 +01:00 (CET)

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