| Metadata | |
|---|---|
| ID | DOID:0050798 |
| Name | cerebral creatine deficiency syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/17603797, https://www.omim.org/entry/300352 |
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