mitochondrial complex I deficiency, nuclear type 26
MONDO:0032630Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 26 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- LacticaciduriaHPOHP:0003648
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 1 of 1 reported patient
- Reduced cerebral white matter volumeHPOHP:0034295
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
- 1 of 1 reported patient
Show the remaining 1
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NDUFA9HGNC:7693
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019