mitochondrial complex I deficiency, nuclear type 36
MONDO:0030902Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 36 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 · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
18 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
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 3 reported patients
- Periventricular leukomalaciaHPOHP:0006970
- 2 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 3 reported patients
- SpasticityHPOHP:0001257
- 2 of 3 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 3 reported patients
- CardiomegalyHPOHP:0001640
- 1 of 3 reported patients · Antenatal onset
- Developmental regressionHPOHP:0002376
- 1 of 3 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 3 reported patients
- HyperalaninemiaHPOHP:0003348
- 1 of 3 reported patients
- HyperprolinemiaHPOHP:0008358
- 1 of 3 reported patients
Show the remaining 6
- Limb hypertoniaHPOHP:0002509
- 1 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 3 reported patients
- Perimembranous ventricular septal defectHPOHP:0011682
- 1 of 3 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 3 reported patients
- Reduced eye contactHPOHP:0000817
- 1 of 3 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.
- NDUFC2HGNC:7706
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
2 names
Resolves to: mitochondrial complex I deficiency, nuclear type 36
- Also called
- MC1DN36mitochondrial complex 1 deficiency, nuclear type 36