Term Name: | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
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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 ) |