| Disease ID | Source | Name | Description |
| 612736 | OMIM | Cerebral creatine deficiency syndrome 2 (CCDS2) | An autosomal recessive disorder characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. The disease is caused by variants affecting the gene represented in this entry. |