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Moderately short stature
- Fast Facts on Osteogenesis Imperfecta (Osteogenesis Imperfecta Foundation) - PDFOsteogenesis Imperfecta/Start Here ... Osteogenesis Imperfecta ... Osteogenesis Imperfecta Foundation ... PDF
- Osteogenesis Imperfecta/Start Here ... Osteogenesis Imperfecta ... National Institute of Arthritis and Musculoskeletal and Skin Diseases ... From the National Institutes ...
- ... with OI are most often below average height ( short stature ). However, the severity of the disease varies greatly. ... a somewhat shortened life expectancy. Type IV, or moderately severe OI, is similar to type I, although ...
- ... lead to the production of an enzyme with moderately reduced function. The severity of the signs and ...
- ... hypotonia), changes in the structure of the brain, moderately to profoundly delayed development, seizures, distinctive facial features, ...
- ... structure or function of the ATP8B1 protein only moderately. Through unknown mechanisms, mutations in the ATP8B1 gene ... unclear how a lack of this protein causes short stature, deafness, diarrhea, and other signs and symptoms of ...