Summary Literature (1)

DOID:0050800 - cerebral creatine deficiency syndrome 1

Disease Ontology Definition:A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28.

Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SLC6A8 deficiency, creatine transporter deficiency,

Xenbase Genes : slc6a8, slc6a8l

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010305 - creatine transporter deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee