All diseases

OMIM ID
300352
OMIM term:
CREATINE DEFICIENCY SYNDROME, X-LINKED
Alternative terms:
CREATINE TRANSPORTER DEFECT
MENTAL RETARDATION, X-LINKED, WITH SEIZURES, SHORT STATURE, AND MIDFACE HYPOPLASIA
MENTAL RETARDATION, X-LINKED, WITH CREATINE TRANSPORT DEFICIENCY
(∗) Location:
Xq28  
(†) Associated OMIM genes:
SLC6A8  
(‡) Associated MGI genes:
Slc6a8  

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