DISEASES

Disease-gene associations mined from literature

JensenLab

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

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [DOID:0110001]

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 with deafness, encephalopathy, and Leigh-like syndrome,  3methylglutaconic aciduria with deafness encephalopathy and Leighlike syndrome,  3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like disease,  3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like disorder,  DOID:0110001 ...