Metadata | |
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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 | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |