Mitochondrial Complex 1 Deficiency

Mitochondrial Complex 1 Deficiency [NDUFAF5]: This disease has a wide range of severity from lethal neonatal disease to adult-onset neurodegenerative disease. Features of the disease include macrocephaly with progressive leukodystrophy, encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome (brain malformations leading to neuromuscular abnormalities, seizures, and eye abnormalities), and Leber hereditary optic neuropathy.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 24