Global Variome shared LOVD

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Phenotype #0000238552 Individual ID 00314754 Associated disease OI Phenotype details first assessment 5y; height 130 cm; no confirmed prenatal fractures; no wormian bones; 40m-first fracture; 12 fractures; 10y-last fracture right femur; white sclera; no dentinogenesis imperfecta; hypermobility of joints; no hearing impairment; barrel shaped chest with pectus excavatum; no cardiac abnormalities; vertebral fractures; no scoliosis; no bowing of upper extremities; no bowing of lower extremities; no shortening of upper extremities; no shortening of lower extremities; surgical correction for bone deformation; mobile; no intellectual disability Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 14y (14 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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