Term Name:	cerebral creatine deficiency syndrome 1
Synonyms:	CEREBRAL CREATINE DEFICIENCY SYNDROME 1, creatine transporter deficiency, SLC6A8 deficiency
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.
Ontology:	Human Disease [DOID:0050800]   ( DOID:0050800 )