mitochondrial complex I deficiency, nuclear type 14
MONDO:0032619Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 14 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
14 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.
- Biventricular hypertrophyHPOHP:0200128
- 3 of 3 reported patients
- Brain atrophyHPOHP:0012444
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 7 of 7 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 7 of 7 reported patients
- Lactic acidosisHPOHP:0003128
- 7 of 7 reported patients
- Secondary microcephalyHPOHP:0005484
- 4 of 7 reported patients
- ApneaHPOHP:0002104
- 3 of 7 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 7 reported patients
- NystagmusHPOHP:0000639
- 1 of 7 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 7 reported patients
Show the remaining 2
- SeizureHPOHP:0001250
- 1 of 7 reported patients
- EncephalopathyHPOHP:0001298
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.
- NDUFA11HGNC:20371
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Moderate · PanelApp Australia · Autosomal recessive · 2025