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Moderately short stature
- ... 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 ...