Traits

Traits linked to EXOC3L2

exocyst complex component 3 like 2

The Human Phenotype Ontology links 22 traits to EXOC3L2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bone marrow failure	Always
Low blood cell count	Always
Low blood neutrophil count	Always
Low number of red blood cells or hemoglobin	Always
Low platelet count	Always

Abnormality of the nervous system

Trait	How often it is seen
Aplasia of the inferior half of the cerebellar vermis	Always
Severe global developmental delay	Always
Cerebellar hemisphere hypoplasia	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Dilated fourth ventricle	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Enlarged posterior fossa	Always
Dandy-Walker malformation	Often (30–79%)
One sided cleft palate	Sometimes (5–29%)
One sided cleft upper lip	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hyperechogenic kidneys	Always
Membranoproliferative glomerulonephritis	Always
Renal tubular atrophy	Always
Stage 5 chronic kidney disease	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Anhydramnios	Always
Low levels of amniotic fluid	Always

Abnormality of the eye

Trait	How often it is seen
Peters anomaly	Always

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	Always

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 EXOC3L2 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