combined oxidative phosphorylation deficiency 54
MONDO:0030543Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 54 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
44 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.
- Global developmental delayHPOHP:0001263
- 4 of 8 reported patients
- Absence of acoustic reflexHPOHP:0008529
- 3 of 8 reported patients
- Hypergonadotropic hypogonadismHPOHP:0000815
- 3 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 8 reported patients
- Primary amenorrheaHPOHP:0000786
- 3 of 8 reported patients
- Periventricular white matter hyperintensitiesHPOHP:0030891
- 2 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 8 reported patients
- AreflexiaHPOHP:0001284
- 1 of 8 reported patients
- AstheniaHPOHP:0025406
- 1 of 8 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 8 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 1 of 8 reported patients
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 1 of 8 reported patients
Show the remaining 32
- EpicanthusHPOHP:0000286
- 1 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 8 reported patients
- Generalized-onset seizureHPOHP:0002197
- 1 of 8 reported patients
- HeadacheHPOHP:0002315
- 1 of 8 reported patients
- HemianopiaHPOHP:0012377
- 1 of 8 reported patients
- HemiparesisHPOHP:0001269
- 1 of 8 reported patients
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.
- PRORPHGNC:19958
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: combined oxidative phosphorylation deficiency 54
- Also called
- COXPD54