Global Variome shared LOVD

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Phenotype #0000350584 Individual ID 00464598 Associated disease OI Phenotype details see paper; ..., 40w-birth, weight 1673g; 20y-height 134cm (Z -4.78), weight 28.2kg (Z -7.6), microcephaly (Z -3.12); osteopenia; multiple fractures; bone deformities; scoliosis; dentinogenesis imperfecta, hypodontia, malocclusion; bilateral mild to moderate mixed hearing loss; restrictive lung disease (small chest); midface retrusion, malar flattening, shallow orbits, mandibular prognathia; moderate secundum, atrial septal defect; drooping eyelids (Lt>Rt); bilateral lagophthalmos, hyperopia; delayed puberty; mild developmental delay (gross motor>fine>speech), normal cognitive function Diagnosis/Initial hypomineralization bones, multiple fractures, skeletal deformities Inheritance Isolated (sporadic) Diagnosis/Definite OI Age/Examination 20y (20 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 2025-03-31 15:12:54 +02:00 (CEST) Date last edited N/A

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