Clinical Characteristics

The syndrome caused by mutations in the NDUFS6 gene is a severe multisystem disorder (MIM618232) leading to death in the first days of life in most of the described patients. It is associated with a wide range of clinical presentations, including neurological, cardiological, muscular, hepatic and renal symptoms. The symptoms of Leigh syndrome are highly variable, but usually include psychomotor arrest or regression, hypotonia, seizures, and, respiratory failure. Onset is typically between three and 12 months; about 50% of affected individuals die by age three years.