| Disease ID | Source | Name | Description |
| 614300 | OMIM | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) | A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. The disease is caused by variants affecting the gene represented in this entry. |