Global Variome shared LOVD

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Phenotype #0000174663 Individual ID 00234242 Associated disease OI Phenotype details blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); Decreased bone density; no hearing loss (-HP:0000365); no dentinogenesis imperfecta (-HP:0000703); Spontaneous intracranial hemorrhage subgaleal and posterior fossa on 2nd DOL; mild joint laxity; dev. delay; ligamentous laxity and hypotonia; valgus feet when standing (feet are still when weight- bearing); Diagnosis/Initial osteogenesis imperfecta Inheritance Isolated (sporadic) Diagnosis/Definite OI-1 Age/Examination 2y (2 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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