| Disease ID | Source | Name | Description |
| 616271 | OMIM | 3-methylglutaconic aciduria 7 (MGCA7) | An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, cataracts, seizures, and recurrent infections. The disease is caused by variants affecting the gene represented in this entry. |