Global Variome shared LOVD

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Phenotype #0000244920 Individual ID 00326452 Associated disease OI Phenotype details see paper; ..., 7m-deceased (respiratory arrest); birth 37w, weight 2,465 g (−1.73 SD), length 42 cm (−2.94 SD); prenatal fractures; bluish sclera; no eye abnormalities; no hypermobility joints; no cardiac impairments; old fractures fractures of both humeri, ribs, femur, and clavicle, multiple fractures ribs; retarded gross motor function Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite OI20 Age/Examination 7m 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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