3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Disease
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.
- Synonyms
- 3-methylglutaconic aciduria type 6
- MEGDEL
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations
Associated Genes
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