Traits

Traits linked to COA3

cytochrome c oxidase assembly factor 3

The Human Phenotype Ontology links 10 traits to COA3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Always
Global developmental delay	Always
Nerve damage causing decreased feeling and movement	Always

Growth abnormality

Trait	How often it is seen
Obesity	Always
Short stature	Always

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex IV	Always

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Always

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	Always

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to COA3 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test