Global Variome shared LOVD

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

Phenotype #0000355868 Individual ID 00471005 Associated disease GT Diagnosis/Initial severe adolescent idiopathic scoliosis Diagnosis/Definite GT1 Phenotype details important during childhood. serious mouth bleeding with several hospital stays. post-traumatic heavy bruising. gastrointestinal bleeding and melena. heavy bleeding after adenoid removal.; absent platelet aggregation; WHO4 bleeding score 3 Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-14 21:30:56 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.