The biallelic variants in the SCO1 gene were associated with “mitochondrial complex 4 deficiency, nuclear type 4” (#619048), a metabolic disorder characterized by hypotonia, developmental delay, encephalopathy, hypertrophic cardiomyopathy, hepatomegaly, hepatic steatosis, hepatic failure, feeding difficulties, increased serum lactate, and metabolic acidosis. This evidence concerns the gene SCO1 and Other metabolic disease.