mitochondrial complex I deficiency, nuclear type 16
MONDO:0032621Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- Adrenal insufficiencyHPOHP:0000846
- 1 of 1 reported patient
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Aplasia of the left hemidiaphragmHPOHP:0009112
- 1 of 1 reported patient · Congenital onset
- Caudate atrophyHPOHP:0002340
- 2 of 2 reported patients
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 3 of 3 reported patients
- DystoniaHPOHP:0001332
- 2 of 2 reported patients · Childhood onset
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Moderate intellectual disabilityHPOHP:0002342
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
Show the remaining 3
- Spastic tetraplegiaHPOHP:0002510
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients · Childhood onset
- DysarthriaHPOHP:0001260
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.
- NDUFAF5HGNC:15899
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023