Global Variome shared LOVD

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Phenotype #0000352071 Individual ID 00466708 Associated disease OI Phenotype details see paper; ..., prenatal fractures ribs/long bones; 2y-moderate short stature, blue sclerae, pectus carinatum bowing lower extremity long bones; no ichthyosis follicularis, no alopecia, no photophobia, no intellectual disability, no seizures; affected adult males fractures beginning during gestation, short stature, white sclerae, variable scoliosis, pectal deformity, striking tibial anterior angulation, generalized osteopenia Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, X-linked recessive Diagnosis/Definite OI19 Age/Examination 02y (2 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 2025-09-23 18:41:22 +02:00 (CEST) Date last edited 2025-09-23 18:50:56 +02:00 (CEST)

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