cerebral creatine deficiency syndrome 1 (DOID:0050800)
Alliance: disease page
Synonyms: CEREBRAL CREATINE DEFICIENCY SYNDROME 1; creatine transporter deficiency; SLC6A8 deficiency
Alt IDs: OMIM:300352
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.