| Metadata | |
|---|---|
| ID | DOID:0110001 |
| Name | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| Definition | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. https://www.ncbi.nlm.nih.gov/pubmed/22683713 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
3-methylglutaconic aciduria type 6 [EXACT] MEGDEL [EXACT] MEGDEL syndrome [EXACT] MGCA6 [EXACT] |
| Parent Relationships |