Traits

Traits linked to COQ2

coenzyme Q2, polyprenyltransferase

The Human Phenotype Ontology links 87 traits to COQ2, by body system: features seen in people with one of the gene's rare conditions.

COQ2

Abnormality of the nervous system

Trait	How often it is seen
Degeneration of cerebellum	Always
Diffuse cerebral atrophy	Always
Global developmental delay	Always
Jerking	Always
Loss of ability to walk	Always
Repeated seizures without recovery between them	Always
Right hemiplegia	Always
Tremor	Always
Abnormal autonomic nervous system physiology	Often (30–79%)
Abnormal brain FDG positron emission tomography	Often (30–79%)
Abnormal pyramidal sign	Often (30–79%)
Abnormal rapid eye movement sleep	Often (30–79%)
Anxiety	Often (30–79%)
Autonomic bladder dysfunction	Often (30–79%)
Axial dystonia	Often (30–79%)
Balance impairment	Often (30–79%)
Central sleep apnea	Often (30–79%)
Depression	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Lack of feeling, emotion, interest	Often (30–79%)
Limb ataxia	Often (30–79%)
Orofacial dyskinesia	Often (30–79%)
Parkinsonism	Often (30–79%)
Postural tremor	Often (30–79%)
Progressive cerebellar ataxia	Often (30–79%)
Resting tremor	Often (30–79%)
Slow movements	Often (30–79%)
Wide based walk	Often (30–79%)
Cognitive impairment	Sometimes (5–29%)
Ataxia	Not recorded
Babinski sign	Not recorded
Encephalopathy	Not recorded
Epilepsy	Not recorded
Explosive speech	Not recorded
Increased reflexes	Not recorded
Intellectual disability	Not recorded
Motor delay	Not recorded
Olivopontocerebellar atrophy	Not recorded
Ongoing loss of nerve cells	Not recorded
Specific learning disability	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Focal segmental glomerulosclerosis	Always
Autonomic erectile dysfunction	Often (30–79%)
Female orgasmic disorder	Often (30–79%)
Difficulty getting a full erection	Not recorded
Glomerular sclerosis	Not recorded
Loss of bladder control	Not recorded
Nephrotic syndrome	Not recorded
Urinary urgency	Not recorded

Abnormality of the eye

Trait	How often it is seen
Downbeat nystagmus	Often (30–79%)
Gaze-evoked nystagmus	Often (30–79%)
Drooping upper eyelid	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Iris degeneration	Not recorded
Rod-cone dystrophy	Not recorded
Visual loss	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Frequent falls	Often (30–79%)
Rigidity	Often (30–79%)
Camptocormia	Sometimes (5–29%)
Muscle degeneration	Not recorded
Progressive muscle weakness	Not recorded
Ragged-red muscle fibers	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Orthostatic hypotension due to autonomic dysfunction	Often (30–79%)
Orthostatic syncope	Often (30–79%)
Raynaud phenomenon	Often (30–79%)
Decrease in blood pressure upon standing up	Not recorded
Enlarged and thickened heart muscle	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Episodic vomiting	Always
Poor swallowing	Always
Constipation	Often (30–79%)
Neuromuscular dysphagia	Often (30–79%)
Liver failure	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased level of coenzyme Q10 in skeletal muscle	Always
High urine protein levels	Always
Elevated blood creatine phosphokinase	Not recorded
Increased lactate in body	Not recorded
Recurrent myoglobinuria	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood cell count	Not recorded
Low number of red blood cells or hemoglobin	Not recorded

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	Not recorded
Lack of sweating	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Hypergonadotropic hypogonadism	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Noisy breathing	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Not recorded

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 COQ2 and how often each is seen. Find out more at hpo.jax.org.

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