mitochondrial complex III deficiency nuclear type 9
Findings
No curated finding names mitochondrial complex III deficiency nuclear type 9 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 UQCC3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014496), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
15 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.
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypermetropiaHPOHP:0000540
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
Show the remaining 3
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Severe lactic acidosisHPOHP:0004900
- 1 of 1 reported patient
- Sleep disturbanceHPOHP:0002360
- 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.
- UQCC3HGNC:34399
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: mitochondrial complex III deficiency nuclear type 9
- Also called
- mitochondrial complex III deficiency caused by mutation in UQCC3UQCC3 mitochondrial complex III deficiency