mitochondrial complex I deficiency, nuclear type 23
MONDO:0032627Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 23 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
- Infantile onset · Progressive
HPO, annotations 2026-09-02
Features
11 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.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- HypertrichosisHPOHP:0000998
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Skeletal muscle atrophyHPOHP:0003202
- 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.
- NDUFA12HGNC:23987
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020