Traits

Traits linked to EXOC8

exocyst complex component 8

The Human Phenotype Ontology links 23 traits to EXOC8, 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
Epilepsy	Always
Increased reflexes	Always
Severe global developmental delay	Always
Underdevelopment of part of brain called corpus callosum	Always
Bilateral tonic-clonic seizure with generalized onset	Often (30–79%)
Choroid plexus cyst	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Irritability	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Brain degeneration	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Flexed joint that cannot be straightened	Often (30–79%)
Low muscle tone	Often (30–79%)
Muscle weakness	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Deformity of the skull	Often (30–79%)
Long eyelashes	Often (30–79%)
Round face	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Optic disc pallor	Often (30–79%)
Outward facing eye ball	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 EXOC8 and how often each is seen. Find out more at hpo.jax.org.

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