mitochondrial complex III deficiency nuclear type 4
Findings
No curated finding names mitochondrial complex III deficiency nuclear type 4 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 UQCRQ gene.
Definition from the Mondo Disease Ontology (MONDO:0014065), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile 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.
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- 20 of 20 reported patients
- AtaxiaHPOHP:0001251
- 20 of 20 reported patients
- AthetosisHPOHP:0002305
- 20 of 20 reported patients
- Axial hypotoniaHPOHP:0008936
- 20 of 20 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 3 of 3 reported patients
- DystoniaHPOHP:0001332
- 20 of 20 reported patients
- Global developmental delayHPO
Show the remaining 2
- Ragged-red muscle fibersHPOHP:0003200
- 0 of 3 reported patients
- Absent speechHPOHP:0001344
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.
- UQCRQHGNC:29594
- Strong · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
2 names
Resolves to: mitochondrial complex III deficiency nuclear type 4
- Also called
- mitochondrial complex III deficiency caused by mutation in UQCRQUQCRQ mitochondrial complex III deficiency