Features include always present findings: Bilateral tonic-clonic seizure, Cardiac arrest, Intellectual disability, and Acidosis and others; and common findings: Encephalopathy, Decreased circulating carnitine concentration, Enlarged liver (hepatomegaly), and Failure to thrive and others. 27 total HPO annotations.

NDUFA2 encodes NADH:ubiquinone oxidoreductase subunit A2 (99 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 Cells EBV-transformed lymphocytes (83.4 TPM) and Testis (79.9 TPM).

Mitochondrial complex I deficiency, nuclear type 13 is associated with mutations in the NDUFA2 gene on chromosome 5.

NDUFA2 is classified as a druggable target (Enzyme category) with score 0.3.

Genetic testing for NDUFA2 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 14 always present features, 12 common features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 13.

4 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 13. Research spans Basic Science / Preclinical (50%), Other (25%), and Review / Meta-Analysis (25%).

Recent Publications

• Gupta P (2025). [PMID: 40016208](https://pubmed.ncbi.nlm.nih.gov/40016208/). *Nat Commun*. [Basic Science / Preclinical]

• Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]

• Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Front Neurol*. [Review / Meta-Analysis]

• Rouzier C (2024). [PMID: 38703036](https://pubmed.ncbi.nlm.nih.gov/38703036/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]