| Disease ID | Source | Name | Description |
| 610198 | OMIM | 3-methylglutaconic aciduria 5 (MGCA5) | An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid. The disease is caused by variants affecting the gene represented in this entry. |