Traits

Traits linked to ATP2B3

ATPase plasma membrane Ca2+ transporting 3

The Human Phenotype Ontology links 25 traits to ATP2B3, 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
Action tremor	Always
Ataxia	Always
Degeneration of cerebellum	Always
Intention tremor	Always
Motor delay	Always
Unsteady walk	Always
Nonprogressive cerebellar ataxia	Very often (80–99%)
Cerebellar vermis hypoplasia	Often (30–79%)
Clumsiness	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Instability or lack of coordination of central trunk muscles	Often (30–79%)
Small cerebellum	Often (30–79%)
Babinski sign	Not recorded
Intellectual disability	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Frequent falls	Often (30–79%)
Generalized low muscle tone in neonate	Often (30–79%)
Low muscle tone	Often (30–79%)
Spastic dysarthria	Often (30–79%)
Difficulty in standing	Not recorded
Low muscle tone, in neonatal onset	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Saccadic smooth pursuit interruptions	Often (30–79%)
Slow eye movements	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	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 ATP2B3 and how often each is seen. Find out more at hpo.jax.org.

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