creatine deficiency syndrome, X-linked
creatine deficiency syndrome, X-linkedAn X-linked condition (OMIM:300352) characterised by developmental delay, hypotonia, mental retardation, seizures, short stature, and midfacial hypoplasia.
Defects in SLC6A8, which encodes a plasma membrane protein that transports creatine into and out of muscle and the brain, cause X-linked creatine deficiency syndrome.
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