Traits

Traits linked to EXOC2

exocyst complex component 2

The Human Phenotype Ontology links 34 traits to EXOC2, 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
Central nervous system cyst	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
CNS hypomyelination	Often (30–79%)
Dilated fourth ventricle	Often (30–79%)
Epilepsy	Often (30–79%)
Fusion of the left and right thalami	Often (30–79%)
Molar tooth sign on MRI	Often (30–79%)
Obstructive sleep apnea	Often (30–79%)
Rhombencephalosynapsis	Often (30–79%)
Severe global developmental delay	Often (30–79%)
Small brainstem	Often (30–79%)
Small cerebellum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Bitemporal hollowing	Often (30–79%)
Depressed nasal tip	Often (30–79%)
Development of small head that was not present at birth	Often (30–79%)
Exaggerated cupid's bow	Often (30–79%)
Long philtrum	Often (30–79%)
Oval face	Often (30–79%)
Sloping forehead	Often (30–79%)
Smooth philtrum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide nasal bridge	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Accessory spleen	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Simple ear	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Optic disc hypoplasia	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flexed joint that cannot be straightened	Often (30–79%)
Spastic tetraplegia	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Dry skin	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 EXOC2 and how often each is seen. Find out more at hpo.jax.org.

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