mitochondrial complex I deficiency, nuclear type 13
MONDO:0032618Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 13 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
- Death in infancy · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
26 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.
- AcidosisHPOHP:0001941
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- BradycardiaHPOHP:0001662
- 1 of 1 reported patient
- Cardiac arrestHPOHP:0001695
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- ComaHPOHP:0001259
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 3 of 3 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient · Neonatal onset
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
Show the remaining 14
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- VomitingHPOHP:0002013
- 1 of 1 reported patient
- Decreased circulating carnitine concentrationHPOHP:0003234
- 1 of 2 reported patients
- EncephalopathyHPOHP:0001298
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 2 reported patients
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.
- NDUFA2HGNC:7685
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025