Global Variome shared LOVD

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Phenotype #0000244918 Individual ID 00326450 Associated disease OI Phenotype details see paper; ..., 17y-deceased (respiratory arrest); birth 37w, weight 3,730 g (+0.38 SD), length 51 cm (+0.38 SD); no prenatal fractures; 24m-first fracture; white sclera; no eye abnormalities; no dentinogenesis imperfecta; disorganized dentition/clinical oligodontia; no hearing impairment; fractures 2y-right clavicle, 3y6m-left femur, 4y-right femur, vertebral compression fractures; retarded gross motor function Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite OI20 Age/Examination 11y1m (11 years, 1 month) 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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