Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000356953 Individual ID 00472144 Associated disease OI1 Phenotype details 1.20 y-first fracture, 25 fractures; height Z -8.00; scoliosis; blue sclerae; no dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis Diagnosis/Initial osteogenesis imperfecta Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Xiuli Zhao Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-01-12 09:58:13 +01:00 (CET) Date last edited N/A

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