Traits

Traits linked to COQ6

coenzyme Q6, monooxygenase

The Human Phenotype Ontology links 28 traits to COQ6, 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
Schwannoma	Always
Spinal cord tumor	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Muscle twitch	Rarely (1–4%)
Noncancerous growth of membranes covering brain	Rarely (1–4%)
Numbness	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Focal segmental glomerulosclerosis	Very often (80–99%)
Steroid-resistant nephrotic syndrome	Very often (80–99%)
Stage 5 chronic kidney disease	Often (30–79%)
Diffuse mesangial sclerosis	Sometimes (5–29%)
Kidney stone	Sometimes (5–29%)
Uterine leiomyoma	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)
Hearing impairment	Sometimes (5–29%)
Ringing in ears	Sometimes (5–29%)
Bilateral vestibular schwannoma	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Fatty lump	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Lumbosacral hemangioma	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Neoplasm of the anterior pituitary	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Peripheral schwannoma	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Weak voice	Rarely (1–4%)

Constitutional symptom

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

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	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 COQ6 and how often each is seen. Find out more at hpo.jax.org.

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