combined oxidative phosphorylation deficiency 53
MONDO:0030378Mondo
Findings
No curated finding names combined oxidative phosphorylation deficiency 53 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
- Death in infancy · Congenital onset · Infantile onset · Neonatal onset · Death in childhood
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.
- Failure to thriveHPOHP:0001508
- 9 of 9 reported patients
- Generalized amyotrophyHPOHP:0003700
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Hypochromic microcytic anemiaHPOHP:0004840
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 11 of 11 reported patients
- Short statureHPOHP:0004322
- 7 of 7 reported patients
- Secondary microcephalyHPOHP:0005484
- 9 of 10 reported patients
- Recurrent feverHPOHP:0001954
- 8 of 9 reported patients
- CNS hypomyelinationHPOHP:0003429
- 6 of 7 reported patients
- HypotoniaHPOHP:0001252
- 9 of 11 reported patients
- Dysplastic corpus callosumHPOHP:0006989
- 8 of 10 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 5 of 8 reported patients
Show the remaining 6
- SpasticityHPOHP:0001257
- 4 of 7 reported patients
- Abdominal distentionHPOHP:0003270
- 4 of 8 reported patients
- ArthritisHPOHP:0001369
- 3 of 9 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 8 reported patients
- OsteomyelitisHPOHP:0002754
- 2 of 8 reported patients
- Septic arthritisHPOHP:0003095
- 2 of 9 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.
- C2orf69HGNC:26799
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: combined oxidative phosphorylation deficiency 53
- Also called
- combined oxidative phosphorylation deficiency due to C2orf69 deficiencyCOXPD53