3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Term ID

DOID:0110001

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. https://www.ncbi.nlm.nih.gov/pubmed/22683713

References

• OMIM:614739
• ORDO:352328

Ontology

Human Disease   ( DOID:0110001 )