mitochondrial complex 1 deficiency, nuclear type 35
MONDO:0033560Mondo
Findings
No curated finding names mitochondrial complex 1 deficiency, nuclear type 35 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
- Neonatal death
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.
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient · Fetal onset
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 1 of 1 reported patient
- Elevated urinary 4-hydroxybutyric acidHPOHP:0032528
- 1 of 1 reported patient
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
- HyperprolinemiaHPOHP:0008358
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- LacticaciduriaHPOHP:0003648
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 1 of 1 reported patient · Neonatal onset
- Neonatal respiratory distressHPOHP:0002643
- 1 of 1 reported patient · Neonatal onset
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 1 reported patient · Fetal onset
Show the remaining 3
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 1 of 1 reported patient · Congenital onset
- Redundant neck skinHPOHP:0005989
- 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.
- NDUFB10HGNC:7696
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of