mitochondrial complex III deficiency, nuclear type 10
MONDO:0032909Mondo
Findings
No curated finding names mitochondrial complex III deficiency, nuclear type 10 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Abnormality of coagulationHPOHP:0001928
- 1 of 1 reported patient
- Alopecia totalisHPOHP:0007418
- 2 of 2 reported patients
- BradycardiaHPOHP:0001662
- 2 of 2 reported patients · Fetal onset
- CholelithiasisHPOHP:0001081
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 2 reported patients
- HypothermiaHPOHP:0002045
- 1 of 1 reported patient · Infantile onset
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
Show the remaining 11
- Normochromic anemiaHPOHP:0001895
- 1 of 1 reported patient
- PapilledemaHPOHP:0001085
- 1 of 1 reported patient
- Pericardial effusionHPOHP:0001698
- 1 of 1 reported patient · Infantile onset
- Stress/infection-induced lactic acidosisHPOHP:0004897
- 2 of 2 reported patients · Infantile onset
- ThrombocytopeniaHPOHP:0001873
- 2 of 2 reported patients
- HyperventilationHPOHP:0002883
- 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.
- UQCRFS1HGNC:12587
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2020
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021