combined oxidative phosphorylation defect type 14
Findings
No curated finding names combined oxidative phosphorylation defect type 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013986), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset · Death in childhood
HPO, annotations 2026-09-02
Features
20 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.
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- 1 of 1 reported patient
- Basal ganglia gliosisHPOHP:0006999
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- Copper accumulation in liverHPOHP:0025321
- 1 of 1 reported patient
- Diffuse cerebral atrophyHPO
Show the remaining 8
- Lactic acidosisHPOHP:0003128
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Myoclonic seizureHPOHP:0032794
- 2 of 2 reported patients
- MyoclonusHPOHP:0001336
- 2 of 2 reported patients
- Profound global developmental delayHPOHP:0012736
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 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.
- FARS2HGNC:21062
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: combined oxidative phosphorylation defect type 14
- Also called
- combined oxidative phosphorylation deficiency caused by mutation in FARS2combined oxidative phosphorylation deficiency type 14COXPD14FARS2 combined oxidative phosphorylation deficiency