Term Name:	cerebral creatine deficiency syndrome
Synonyms:
Definition:	An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28.
Ontology:	Human Disease [DOID:0050798]   ( DOID:0050798 )