Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (1)
MIM:300352 - CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Xenbase Genes: slc6a8, slc6a8l

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010305 - creatine transporter deficiency

Disease Ontology (DO):
DOID:0050800 - cerebral creatine deficiency syndrome 1