Human genes for creatine transporter deficiency
Creatine transporter deficiency [DOID:0050800]
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: creatine transporter deficiency, DOID:0050800, creatine transporter deficiencies, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SLC6A8 deficiency
Linkouts: OMIM