mitochondrial complex I deficiency, nuclear type 6
MONDO:0032611Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 6 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
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
29 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 IHPOHP:0011923
- 6 of 6 reported patients
- Lactic acidosisHPOHP:0003128
- 6 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 6 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 6 reported patients
- Motor delayHPOHP:0001270
- 3 of 6 reported patients
- NystagmusHPOHP:0000639
- 3 of 6 reported patients
- VomitingHPOHP:0002013
- 3 of 6 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 6 reported patients
- Horizontal nystagmusHPOHP:0000666
- 2 of 6 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 2 of 6 reported patients
- Abnormal pyramidal signHPOHP:0007256
- 1 of 6 reported patients
Show the remaining 17
- ApneaHPOHP:0002104
- 1 of 6 reported patients
- AtaxiaHPOHP:0001251
- 1 of 6 reported patients
- Developmental regressionHPOHP:0002376
- 1 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 6 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 6 reported patients
- HypotoniaHPOHP:0001252
- 1 of 6 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.
- NDUFS2HGNC:7708
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019