Global Variome shared LOVD

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

Phenotype #0000174516 Individual ID 00234095 Associated disease OI Phenotype details Height/weight normal; blue sclerae (HP:000592); multiple fractures (HP:0002757); Prominent large and small joint hypermobility; exaggerated lordosis of back; was receiving bisphosphonate treatment as part of Novartis bisphosphonate intervention study but discontinued due to needle phobia Diagnosis/Initial osteogenesis imperfecta Inheritance Isolated (sporadic) Diagnosis/Definite OI-1 Age/Examination 13y (13 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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