combined oxidative phosphorylation deficiency 38
MONDO:0032712Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 38 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
21 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.
- Abnormal mitochondrial morphologyHPOHP:0008322
- 1 of 1 reported patient
- Decreased activity of mitochondrial ATP synthase complexHPOHP:0011925
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HyperalaninemiaHPOHP:0003348
- 1 of 1 reported patient
Show the remaining 9
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Hypertrophic cardiomyopathyHPOHP:0001639
- 1 of 1 reported patient · Antenatal onset
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Lactic acidosisHPOHP:0003128
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Midface retrusionHPOHP:0011800
- 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.
- MRPS14HGNC:14049
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020