Phenotype #0000174529

Individual ID 00234108
Associated disease OI
Phenotype details Height/weight 149cm; multiple fractures (HP:0002757)
Diagnosis/Initial osteogenesis imperfecta
Inheritance Unknown
Diagnosis/Definite OI-1
Age/Examination 22y (22 years)
Age/Onset -
Phenotype/Onset -
Protein Reduced type I procollagen
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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