Term Name: | cerebral creatine deficiency syndrome |
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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 ) |