Global Variome shared LOVD

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Phenotype #0000174712 Individual ID 00234291 Associated disease OI Phenotype details blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); bowing and shortening of limbs; hyperflexion of l. hip causing abnormal positioning of l. leg, reduced bone density; rodding Diagnosis/Initial osteogenesis imperfecta Inheritance Unknown Diagnosis/Definite OI-3 Age/Examination 1d 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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