creatine deficiency syndrome, X-linked

(redirected from XL-CDS)

creatine deficiency syndrome, X-linked

An X-linked condition (OMIM:300352) characterised by developmental delay, hypotonia, mental retardation, seizures, short stature, and midfacial hypoplasia.
 
Molecular pathology
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.