mitochondrial complex III deficiency, nuclear type 11
MONDO:0859321Mondo
Findings
No curated finding names mitochondrial complex III deficiency, nuclear type 11 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
- Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- ConfusionHPOHP:0001289
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 2 of 2 reported patients
- HyperammonemiaHPOHP:0001987
- 2 of 2 reported patients
- HypoglycemiaHPOHP:0001943
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Metabolic acidosisHPOHP:0001942
- 2 of 2 reported patients
- VomitingHPOHP:0002013
- 2 of 2 reported patients
- Abdominal painHPOHP:0002027
- 1 of 2 reported patients
- DiarrheaHPOHP:0002014
- 1 of 2 reported patients
- FeverHPOHP:0001945
- 1 of 2 reported patients
- MicrotiaHPOHP:0008551
- 1 of 2 reported patients
- PancreatitisHPOHP:0001733
- 1 of 2 reported patients
Show the remaining 1
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 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.
- UQCRHHGNC:12590
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023