DISEASES

Disease-gene associations mined from literature

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