Global Variome shared LOVD

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Phenotype #0000238555 Individual ID 00314757 Associated disease OI Phenotype details first assessment 1.5m; height 138 cm; no confirmed prenatal fractures; wormian bones; 24m-first fracture; >30 fractures; 37y-last fracture right femur; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; bell shaped chest; vertebral fractures; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; 18y-wheelchair bound; no intellectual disability Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 43y (43 years) 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 2020-10-16 20:38:23 +02:00 (CEST) Date last edited N/A

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