Global Variome shared LOVD

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Phenotype #0000268203 Individual ID 00372927 Associated disease OI Phenotype details 1y-first fracture, 30 fractures; height Z -3.24; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite OI6 Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Xiuli Zhao Database submission license No license selected Created by Xiuli Zhao Date created 2018-09-25 13:36:26 +02:00 (CEST) Date last edited 2026-01-12 09:09:19 +01:00 (CET)

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