NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2) serves as a molecular chaperone essential for mitochondrial complex I assembly 1. Complex I functions in electron transfer from NADH to ubiquinone in the respiratory chain 1. Beyond its mitochondrial role, NDUFAF2 is involved in primary cilia formation, participating in CP110 removal from mother centrioles, membrane vesicle docking, and transition zone establishment 2. The protein interacts with ARMC9, a basal body protein, linking mitochondrial metabolism to ciliary signaling 2. Biallelic loss-of-function mutations in NDUFAF2 cause Leigh syndrome, characterized by infantile-onset brainstem neurodegeneration with progressive encephalopathy, growth retardation, ophthalmological impairments, and early lethality 3. Clinical manifestations include apneic episodes triggered by febrile illnesses and progressive loss of developmental milestones 3. Neuroimaging reveals progressive T2-hyperintense signals in brainstem, upper cervical cord, basal ganglia, and thalami 3. NDUFAF2 deficiency also associates with optic atrophy, including autosomal recessive Leber Hereditary Optic Neuropathy phenotype 4. The protein's dual role in mitochondrial function and ciliogenesis explains the diverse clinical manifestations observed in NDUFAF2-related disorders.