| Disease ID | Source | Name | Description |
| 300352 | OMIM | Cerebral creatine deficiency syndrome 1 (CCDS1) | An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. The disease is caused by variants affecting the gene represented in this entry. |