| Term Name: | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
|---|---|
| Synonyms: | 3-methylglutaconic aciduria type 6, MEGDEL, MEGDEL syndrome, MGCA6 |
| Definition: | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. |
| Ontology: | Human Disease [DOID:0110001] ( DOID:0110001 ) |