Mitochondrial Complex 1 Deficiency

Mitochondrial Complex I Deficiency [NDUFS6]: A mitochondrial disease that causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.

Ashkenazi Jewish Carrier Frequency: 1 in 290