DISEASES

Disease-gene associations mined from literature

JensenLab

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