Phenotype #0000174685

Individual ID 00234264
Associated disease OI
Phenotype details Height/weight 135cm at 10y; blue sclerae (HP:000592); multiple fractures (HP:0002757) (9); no bone deformity
Diagnosis/Initial osteogenesis imperfecta
Inheritance Familial, autosomal dominant
Diagnosis/Definite OI-1
Age/Examination 10y (10 years)
Age/Onset -
Phenotype/Onset -
Protein no collagen screen performed
Owner name Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Global Variome, with Curator vacancy
Date created 2019-01-13 12:23:00 +01:00 (CET)
Date last edited N/A

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