Traits

Traits linked to JAM2

junctional adhesion molecule 2

The Human Phenotype Ontology links 60 traits to JAM2, 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
Limb ataxia	Very often (80–99%)
Anxiety	Often (30–79%)
Babinski sign	Often (30–79%)
Bilateral basal ganglia lesions	Often (30–79%)
Brisk reflexes	Often (30–79%)
Choreoathetosis	Often (30–79%)
Dementia	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Epilepsy	Often (30–79%)
Headache	Often (30–79%)
Mental deterioration	Often (30–79%)
Parkinsonism	Often (30–79%)
Personality changes	Often (30–79%)
Psychosis	Often (30–79%)
Slow movements	Often (30–79%)
Thalamic calcification	Often (30–79%)
Tremor	Often (30–79%)
Worsening neurological symptoms	Often (30–79%)
Abnormal pyramidal sign	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Clumsiness	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Generalized dystonia	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Limb dystonia	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Orofacial dyskinesia	Sometimes (5–29%)
Poor concentration	Sometimes (5–29%)
Slurred speech	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Abnormal gait	Not recorded
Balance impairment	Not recorded
Chorea	Not recorded
Depression	Not recorded
Difficulty performing quick and alternating movements	Not recorded
Increased reflexes	Not recorded
Involuntary writhing movements in fingers, hands, toes, and feet	Not recorded
Micrographia	Not recorded
Uncoordinated limb movement	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Basal ganglia calcification	Always
Cerebellar calcifications	Very often (80–99%)
Rigidity	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Muscle spasm	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)
Cerebellar dentate nucleus calcification	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Difficulty getting a full erection	Sometimes (5–29%)
Urinary urgency	Sometimes (5–29%)
Loss of bladder control	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Expressionless face	Often (30–79%)
Decreased facial expressions	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Sometimes (5–29%)
Calcification of the small brain vessels	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Central nervous system infection	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating metabolite concentration	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 JAM2 and how often each is seen. Find out more at hpo.jax.org.

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