mitochondrial complex I deficiency, nuclear type 15
MONDO:0032620Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 15 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
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
18 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
- CNS demyelinationHPOHP:0007305
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 4 of 4 reported patients
- DystoniaHPOHP:0001332
- 5 of 5 reported patients
- EncephalopathyHPOHP:0001298
- 6 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 5 of 5 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 9 of 9 reported patients
- Metabolic acidosisHPOHP:0001942
- 9 of 9 reported patients · Congenital onset
- NystagmusHPOHP:0000639
- 5 of 5 reported patients
- Reduced eye contactHPOHP:0000817
- 5 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 5 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 6 reported patients · Childhood onset
Show the remaining 6
- Failure to thriveHPOHP:0001508
- HyperreflexiaHPOHP:0001347
- IrritabilityHPOHP:0000737
- KyphosisHPOHP:0002808
- Optic atrophyHPOHP:0000648
- Spastic tetraplegiaHPOHP:0002510
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.
- NDUFAF4HGNC:21034
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025