combined oxidative phosphorylation deficiency 51
MONDO:0033631Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 51 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
18 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.
- Aspiration pneumoniaHPOHP:0011951
- 1 of 1 reported patient
- Caesarean sectionHPOHP:0011410
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Focal T2 hyperintense thalamic lesionHPOHP:0012692
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 1 of 1 reported patient
- Nasogastric tube feedingHPOHP:0040288
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 1 of 1 reported patient
Show the remaining 6
- NystagmusHPOHP:0000639
- 1 of 1 reported patient
- Optic atrophyHPOHP:0000648
- 1 of 1 reported patient
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
- RigidityHPOHP:0002063
- 1 of 1 reported patient
- Severe short statureHPOHP:0003510
- 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.
- PTCD3HGNC:24717
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 51
- Also called
- COXPD51