Traits

Traits linked to COX20

cytochrome c oxidase assembly factor COX20

The Human Phenotype Ontology links 18 traits to COX20, 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
Ataxia	Always
Cerebellar vermis atrophy	Always
Delayed speech and language development	Always
Difficulty articulating speech	Always
Babinski sign	Often (30–79%)
Choreoathetosis	Often (30–79%)
Limb dystonia	Often (30–79%)
Dilated fourth ventricle	Not recorded
Sensory axonal neuropathy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased CSF lactate	Always
Elevated blood creatine phosphokinase	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Frequent falls	Often (30–79%)

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
Wry neck	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Foot drop	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Small for gestational age	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 COX20 and how often each is seen. Find out more at hpo.jax.org.

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