Leigh Syndrome (NDUFS7)

Leigh syndrome (NDUFS7-related) is an autosomal recessive disorder caused by pathogenic variants in the gene NDUFS7. The onset is typically in infancy after normal development. Neurological symptoms include encephalopathy, seizures, hypotonia, and developmental regression. Lactic acidosis can occur, causing rapid breathing, nausea, vomiting, and may cause early death. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):