Traits

Traits linked to JAM3

junctional adhesion molecule 3

The Human Phenotype Ontology links 15 traits to JAM3, 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
Small cerebellum	Sometimes (5–29%)
Global developmental delay	Not recorded
Increased reflexes	Not recorded
Ventriculomegaly	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Abnormally small eyeball	Sometimes (5–29%)
Optic disc pallor	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney location	Often (30–79%)
Cystic renal dysplasia	Often (30–79%)
Undescended testes	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	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 JAM3 and how often each is seen. Find out more at hpo.jax.org.

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