Mutations in the NDUFAF6 gene are associated with complex I enzymatic deficiency and lead to Leigh syndrome, which is characterized by lesions in the central nervous system and rapid deterioration of cognitive and motor functions. In Acadians, a non-coding mutation in NDUFAF6 has been shown to cause Acadian variant Fanconi Syndrome, symptoms of which include pulmonary interstitial fibrosis and proximal tubular dysfunction accompanied by slowly progressive kidney disease. Inheritance of mutations in the NDUFAF6 gene is autosomal recessive.