cerebral creatine deficiency syndrome 1

Term ID

DOID:0050800

Synonyms

• CEREBRAL CREATINE DEFICIENCY SYNDROME 1
• creatine transporter deficiency
• SLC6A8 deficiency

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. (2)

References

• OMIM:300352

Ontology

Human Disease   ( DOID:0050800 )