mitochondrial complex I deficiency, nuclear type 10
MONDO:0032616Mondo
Findings
No curated finding names mitochondrial complex I 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
- Onset and course
- Progressive · Childhood 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Horizontal nystagmusHPOHP:0000666
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
Show the remaining 3
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
- Sleep apneaHPOHP:0010535
- 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.
- NDUFAF2HGNC:28086
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018