mitochondrial complex I deficiency, nuclear type 34
MONDO:0032910Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 34 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
HPO, annotations 2026-09-02
Features
12 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.
- Lactic acidosisHPOHP:0003128
- 3 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 3 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 3 reported patients
- Abnormal diffusion weighted cerebral MRI morphologyHPOHP:0032615
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Feeding difficulties in infancyHPOHP:0008872
- Metabolic acidosisHPOHP:0001942
- Optic atrophyHPOHP:0000648
- Optic disc pallorHPOHP:0000543
- Respiratory failure requiring assisted ventilationHPOHP:0004887
- SeizureHPOHP:0001250
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.
- HGNC:33551HGNC:33551
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019