| Disease ID | Source | Name | Description |
| 613752 | OMIM | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) | A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. The disease is caused by variants affecting the gene represented in this entry. |