Global Variome shared LOVD

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

Phenotype #0000174528 Individual ID 00234107 Associated disease OI Phenotype details Height/weight 152cm; blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703); Severe aortic regurgitation w/out BAV or aortic stenosis, ascending aortic dilatation, possible endocarditis; thoracolumbar scoliosis Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal dominant Diagnosis/Definite OI-1 Age/Examination 53y (53 years) Age/Onset - Phenotype/Onset - Protein no collagen screen performed Owner name Global Variome, with Curator vacancy Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Global Variome, with Curator vacancy Date created 2019-01-13 12:23:00 +01:00 (CET) Date last edited N/A

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