combined oxidative phosphorylation deficiency 50
MONDO:0033570Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 50 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
16 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.
- Adrenal insufficiencyHPOHP:0000846
- 1 of 1 reported patient
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Delayed ability to crawlHPOHP:0033128
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- DysphagiaHPOHP:0002015
- 1 of 1 reported patient
- Generalized dystoniaHPOHP:0007325
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hip dysplasiaHPOHP:0001385
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 1 of 1 reported patient
Show the remaining 4
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Partial agenesis of the corpus callosumHPOHP:0001338
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 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.
- MRPS25HGNC:14511
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
- A kind of