Traits

Traits linked to COQ8A

coenzyme Q8A

The Human Phenotype Ontology links 35 traits to COQ8A, 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
Degeneration of cerebellum	Always
Epilepsia partialis continua	Always
Epilepsy	Always
Progressive cerebellar ataxia	Very often (80–99%)
Brisk reflexes	Often (30–79%)
Focal T2 hypointense basal ganglia lesion	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
IQ between 34 and 49	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Dystonia	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Increased intramyocellular lipid droplets	Always
Elevated lactate:pyruvate ratio	Often (30–79%)
Higher than normal levels of lactate in blood	Often (30–79%)
Increased CSF lactate	Often (30–79%)
Increased lactate in body	Sometimes (5–29%)
Decreased level of coenzyme Q10 in skeletal muscle	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Proximal neurogenic muscle weakness	Often (30–79%)
EMG abnormality	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Talipes cavus equinovarus	Often (30–79%)
High-arched foot	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)

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 COQ8A and how often each is seen. Find out more at hpo.jax.org.

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