mitochondrial complex I deficiency, nuclear type 33
MONDO:0032636Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 33 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
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
38 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.
- Increased CSF lactateHPOHP:0002490
- 2 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 4 reported patients
- Lactic acidosisHPOHP:0003128
- 2 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- Small for gestational ageHPOHP:0001518
- 2 of 4 reported patients
- Status epilepticusHPOHP:0002133
- 2 of 4 reported patients
- ApneaHPOHP:0002104
- 1 of 4 reported patients
- Aspiration pneumoniaHPOHP:0011951
- 1 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 4 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 4 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 4 reported patients
Show the remaining 26
- Craniofacial dystoniaHPOHP:0012179
- 1 of 4 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 1 of 4 reported patients
- DysarthriaHPOHP:0001260
- 1 of 4 reported patients
- DysphagiaHPOHP:0002015
- 1 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 4 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.
- NDUFA6HGNC:7690
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2019
- Moderate · Ambry Genetics · Autosomal recessive · 2018