mitochondrial complex I deficiency, nuclear type 39
MONDO:0859320Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 39 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
- Second trimester onset
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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 1 reported patient
- Elevated brain lactate level by MRSHPOHP:0012707
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- OligohydramniosHPOHP:0001562
- 1 of 1 reported patient
Show the remaining 3
- Perimembranous ventricular septal defectHPOHP:0011682
- 1 of 1 reported patient
- Reduced brain N-acetyl aspartate level by MRSHPOHP:0012708
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
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.
- NDUFB7HGNC:7702
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2021