Global Variome shared LOVD

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Phenotype #0000322349 Individual ID 00431781 Associated disease OI8 Phenotype details White sclerae and short, barrel-shaped chest. Not able to walk or stand. Short stature. Generalized osteopenia, platyspondyly, slender ribs. Long bones were slender and curved with multiple fractures, resulting in severe bowing. The metaphyses were bulbous and flared. Curved tibiae and fibulae. Various dental abnormalies, e.g. hypodontia. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Kim Worring Database submission license Creative Commons Attribution 4.0 International Created by Kim Worring Date created 2023-02-16 13:41:33 +01:00 (CET) Date last edited 2023-02-23 10:42:45 +01:00 (CET)

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