Global Variome shared LOVD

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Phenotype #0000350585 Individual ID 00464599 Associated disease OI Phenotype details see paper; ..., 38w-birth, weight 2353g; prenatal oligohydramnios; ; 30y-height 91.4cm (Z -10.8), weight 27.2kg (Z -9.2), no microcephaly; osteopenia; multiple fractures; bone deformities; scoliosis; dentinogenesis imperfecta; bilateral moderate to severe mixed hearing loss; restrictive lung disease (small chest); relative macrocephaly, triangular shaped facies, proptosis, downslanting palpebral fissures, mildly low-set ears; no congenital heart defect; blue sclera, drooping eye lids; normal puberty; normal cognitive function Diagnosis/Initial hypomineralization bones, multiple fractures, skeletal deformities Inheritance Isolated (sporadic) Diagnosis/Definite OI Age/Examination 30y (30 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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