Global Variome shared LOVD

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Phenotype #0000238554 Individual ID 00314756 Associated disease OI Phenotype details height 115 cm; no confirmed prenatal fractures; 25y-15 fractures; white sclera; no dentinogenesis imperfecta; no hearing impairment; chest deformity; cardiac abnormalities; scoliosis; bowing of upper extremities; bowing of lower extremities; shortening of upper extremities; shortening of lower extremities; surgical correction for bone deformation; wheelchair bound; no intellectual disability Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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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