OTC is a gene on the X-chromosome, so a pathogenic variant found in a male would be expected to be associated with the disease OTC deficiency. It does not define the severity of the disease, which can range from hyperammonemic crisis in the newborn period to mild adult-onset forms. Note that sex must be specified, as the condition manifests differently in females. This evidence concerns the gene OTC and ornithine carbamoyltransferase deficiency.