mitochondrial complex I deficiency, nuclear type 32
MONDO:0032635Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 32 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 · Death in childhood
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 IHPOHP:0011923
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 2 of 2 reported patients
- Increased CSF lactateHPOHP:0002490
- 4 of 4 reported patients
- Metabolic acidosisHPOHP:0001942
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- HyponatremiaHPOHP:0002902
- 1 of 2 reported patients
- Patent urachusHPOHP:0010479
- 1 of 2 reported patients
- Respiratory failureHPOHP:0002878
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 2 reported patients
Show the remaining 3
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 2 reported patients
- Small for gestational ageHPOHP:0001518
- 1 of 2 reported patients
- VomitingHPOHP:0002013
- 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.
- NDUFB8HGNC:7703
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020