mitochondrial complex III deficiency nuclear type 7
Findings
No curated finding names mitochondrial complex III deficiency nuclear type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014356), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- 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.
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- Breech presentationHPOHP:0001623
- 1 of 1 reported patient
- Congenital lactic acidosisHPOHP:0004902
- 1 of 1 reported patient · Neonatal onset
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IV
Show the remaining 14
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 2 of 2 reported patients
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 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.
- UQCC2HGNC:21237
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
2 names
Resolves to: mitochondrial complex III deficiency nuclear type 7
- Also called
- mitochondrial complex III deficiency caused by mutation in UQCC2UQCC2 mitochondrial complex III deficiency