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mitochondrial complex I deficiency, nuclear type 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex I deficiency, nuclear type 23

MONDO:0032627

Also known as:MC1DN23

Overview

GeneticsAutosomal recessive · NDUFA12 (chr 12)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Skeletal muscle atrophy, Sideways curvature of the spine (scoliosis), Delayed ability to walk, and Dystonia and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Skeletal muscle atrophy, Low muscle tone (hypotonia), Generalized hypotonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NDUFA12 encodes NADH:ubiquinone oxidoreductase subunit A12 (145 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 Heart Left Ventricle (78.1 TPM) and Muscle Skeletal (76.8 TPM).

Mitochondrial complex I deficiency, nuclear type 23 is associated with mutations in the NDUFA12 gene on chromosome 12.

NDUFA12 is classified as a druggable target (Enzyme category) with score 0.3.

Diagnosis

Genetic testing for NDUFA12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial complex I deficiency, nuclear type 23.

1 publication has been identified in PubMed for mitochondrial complex I deficiency, nuclear type 23. Research spans Review / Meta-Analysis (100%).

Recent Publications

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

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618244

GARD

Genetic and Rare Diseases Info Center

GARD:18374

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial complex I deficiency, nuclear type 23

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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