Global Variome shared LOVD

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Phenotype #0000350586 Individual ID 00464600 Associated disease OI Phenotype details see paper; ..., 23w+2 pregnancy terminated, short long bones with bowed femurs, in utero fractures, no microcephaly; osteopenia; in utero bilateral fractures of femur, radius and ulna, and multiple rib fractures; bone deformities (angulation of humeri, right tibia and left fibula); no scoliosis; slightly reduced lung weight/body weight ratio, normal lung histology; low-set ears, micrognathia, high arched palate, flattened nares; no congenital heart defect Diagnosis/Initial hypomineralization bones, multiple fractures, skeletal deformities Inheritance Isolated (sporadic) Diagnosis/Definite OI Age/Examination <0d 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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