Homozygous c.442C>T (p.R148X) disease causing variant in the SERAC1 gene. SERAC1 variants cause 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), an autosomal recessive disorder. Phenotypes include delayed psychomotor development, hearing loss, movement disorder, and elevated 3-methylglutaconic acid [48]. Here, SERAC1 is linked to deafness.