Features include always present findings: Bilateral tonic-clonic seizure, Lethargy, Low muscle tone (hypotonia), and Undetectable visual evoked potentials and others; and common findings: Microcephaly, Ragged-red muscle fibers, Short chin, and 3-hydroxydicarboxylic aciduria and others. 64 total HPO annotations.

NDUFS4 encodes NADH:ubiquinone oxidoreductase subunit S4 (175 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 Muscle Skeletal (120.3 TPM) and Artery Tibial (118.1 TPM).

Mitochondrial complex I deficiency, nuclear type 1 is associated with mutations in the NDUFS4 gene on chromosome 5.

NDUFS4 is classified as a druggable target (Enzyme category) with score 0.3.

Genetic testing for NDUFS4 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 21 always present features, 14 common features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 1.

47 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 1. Kisho has analyzed 30 by research type. Research spans Basic Science / Preclinical (60%), Case Report / Case Series (23%), and Other (7%).