Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Features include always present findings: Spastic tetraplegia, Loss of previously acquired skills (developmental regression), and Leukoencephalopathy; and very common findings: Growth delay. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Spastic tetraplegia, Loss of previously acquired skills (developmental regression), Irritability |
SDHAF1 function has not been fully characterized.
Mitochondrial complex 2 deficiency, nuclear type 2 is associated with mutations in the SDHAF1 gene on chromosome 19.
Genetic testing for SDHAF1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 1 very common feature, 1 common feature.
No clinical trials have been registered for mitochondrial complex 2 deficiency, nuclear type 2.
18 publications have been identified in PubMed for mitochondrial complex 2 deficiency, nuclear type 2. Research spans Basic Science / Preclinical (56%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 10 | 56% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Growth and development |
1 |
Growth delay |
Research summaries
3 |
17% |
Patient case studies | 3 | 17% |
Other research | 1 | 6% |
Clinical study results | 1 | 6% |
Dou K (2026). [PMID: 41805567](https://pubmed.ncbi.nlm.nih.gov/41805567/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Banerjee R (2026). [PMID: 42035262](https://pubmed.ncbi.nlm.nih.gov/42035262/). *Mol Ther*. [Basic Science / Preclinical]
Lan SC (2026). [PMID: 42091683](https://pubmed.ncbi.nlm.nih.gov/42091683/). *Neurol Sci*. [Case Report / Case Series]
Yang Q (2026). [PMID: 41982415](https://pubmed.ncbi.nlm.nih.gov/41982415/). *Front Neurol*. [Clinical Trial Publication]
Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Mol Genet Metab*. [Basic Science / Preclinical]
Li S (2026). [PMID: 41909124](https://pubmed.ncbi.nlm.nih.gov/41909124/). *Front Cell Dev Biol*. [Basic Science / Preclinical]
Tang Z (2026). [PMID: 42068584](https://pubmed.ncbi.nlm.nih.gov/42068584/). *Rev Neurosci*. [Review / Meta-Analysis]
Kaiyrzhanov R (2025). [PMID: 39963288](https://pubmed.ncbi.nlm.nih.gov/39963288/). *Brain Commun*. [Other]
Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]
AI-curated news mentioning mitochondrial complex 2 deficiency, nuclear type 2
Updated May 7, 2026
A recent case report analyzes the clinical onset age-related phenotypic features of mitochondrial complex III deficiency nuclear type 2. This study contributes to understanding the variability in disease presentation, which may inform future research and clinical approaches.