mitochondrial complex I deficiency, nuclear type 37
MONDO:0030997Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type 37 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
31 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.
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient · Young adult onset
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Corpus callosum atrophyHPOHP:0007371
- 1 of 1 reported patient · Young adult onset
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient · Male
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Increased CSF lactateHPOHP:0002490
- 1 of 1 reported patient
Show the remaining 19
- Inguinal herniaHPOHP:0000023
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
- OpisthotonusHPOHP:0002179
- 1 of 1 reported patient · Infantile onset
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Pulmonary arterial hypertensionHPOHP:0002092
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 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.
- NDUFA8HGNC:7692
- Strong · G2P · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
2 names
Resolves to: mitochondrial complex I deficiency, nuclear type 37
- Also called
- MC1DN37mitochondrial complex 1 deficiency, nuclear type 37