| Disease ID | Source | Name | Description |
| 271980 | OMIM | Succinic semialdehyde dehydrogenase deficiency (SSADHD) | A rare inborn error of 4-aminobutyric acid (GABA) metabolism, which leads to accumulation of 4-hydroxybutyric acid in physiologic fluids of patients. The disease is clinically characterized by developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances. The disease is caused by variants affecting the gene represented in this entry. |