mitochondrial complex I deficiency, nuclear type 8
MONDO:0032613Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 8 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
6 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.
- Axial dystoniaHPOHP:0002530
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- KyphoscoliosisHPOHP:0002751
- 1 of 1 reported patient
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Stiff neckHPOHP:0025258
- 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.
- NDUFS3HGNC:7710
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025