Features include always present findings: Hearing loss (hearing impairment), Hyperalaninemia, Axial hypotonia, and Global developmental delay and others; and common findings: Poor head control, Shrinkage of the cerebellum (cerebellar atrophy), Gastroesophageal reflux, and Lower limb spasticity and others. 23 total HPO annotations.

NDUFA13 encodes NADH:ubiquinone oxidoreductase subunit A13 (144 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 Testis (261.5 TPM) and Heart Left Ventricle (190.8 TPM).

Mitochondrial complex I deficiency, nuclear type 28 is associated with mutations in the NDUFA13 gene on chromosome 19.

The NDUFA13 protein participates in HTRA2 degrades NDUFA13 (GRIM-19) pathway.

NDUFA13 is classified as a druggable target (Enzyme and Transcription Factor categories) with score 13.1.

Genetic testing for NDUFA13 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 12 common features.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 28.

3 publications have been identified in PubMed for mitochondrial complex I deficiency, nuclear type 28. Research spans Other (33%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Hock DH (2025). [PMID: 40400026](https://pubmed.ncbi.nlm.nih.gov/40400026/). *Genome Med*. [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]