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Cerebral Creatine Deficiency Syndrome 1
A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, is caused by mutation in the SLC6A8 gene on chromosome Xq28.
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Overview
A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, is caused by mutation in the SLC6A8 gene on chromosome Xq28.
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