Traits

Traits linked to CDK8

cyclin dependent kinase 8

The Human Phenotype Ontology links 25 traits to CDK8, 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
Intellectual disability	Always
Agenesis of corpus callosum	Often (30–79%)
Attention deficit	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Abnormal gait	Not recorded
Motor delay	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)
Underdeveloped left heart	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Anteriorly placed anus	Sometimes (5–29%)
Episodic vomiting	Sometimes (5–29%)
Rectoperineal fistula	Sometimes (5–29%)
Feeding difficulties in infancy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Often (30–79%)
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
Metopic synostosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	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 CDK8 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