Global Variome shared LOVD

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Phenotype #0000244919 Individual ID 00326451 Associated disease OI Phenotype details see paper; ..., birth at term, weight 2,730 g (−1.35 SD), length 52 cm (+0.76 SD); no prenatal fractures; 24m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia, radiographic evidence of oligodontia; no hypermobility joints; old fractures of extremities, fractures vertebrae and ribs; retarded gross motor function Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite OI20 Age/Examination 12y2m (12 years, 2 months) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-01-12 19:02:52 +01:00 (CET) Date last edited N/A

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