Human genes for cerebral creatine deficiency syndrome 1
Cerebral creatine deficiency syndrome 1 [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: cerebral creatine deficiency syndrome 1, DOID:0050800, SLC6A8 deficiency, creatine transporter deficiency, creatine transporter deficiencies
Linkouts: OMIM