Phenotype #0000356980

Individual ID 00472171
Associated disease OI1
Phenotype details 0y-first fracture, 16 fractures; height Z -2.15; no scoliosis; blue sclerae; no dentinogenesis imperfecta; no hearing loss; able to walk; no ptosis
Diagnosis/Initial osteogenesis imperfecta
Inheritance Familial, autosomal recessive
Diagnosis/Definite OI8
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Xiuli Zhao
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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