Features include always present findings: Biventricular hypertrophy, Increased circulating lactate concentration, Global developmental delay, and Decreased activity of mitochondrial complex I and others; and common findings: Secondary microcephaly, Generalized hypotonia, and Apnea. 15 total HPO annotations.

NDUFA11 encodes NADH:ubiquinone oxidoreductase subunit A11 (141 aa). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Highest expression in Adrenal Gland (59.7 TPM) and Heart Atrial Appendage (58.8 TPM).

Mitochondrial complex I deficiency, nuclear type 14 is associated with mutations in the NDUFA11 gene on chromosome 19.

NDUFA11 is classified as a druggable target (Enzyme category) with score 0.3.

Genetic testing for NDUFA11 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 7 always present features, 3 common features.