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	Kui sageli seda täheldatakse
Action tremor	Alati
Ataxia	Alati
Degeneration of cerebellum	Alati
Intention tremor	Alati
Motor delay	Alati
Unsteady walk	Alati
Nonprogressive cerebellar ataxia	Väga sageli (80–99%)
Cerebellar vermis hypoplasia	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Difficulty articulating speech	Sageli (30–79%)
Instability or lack of coordination of central trunk muscles	Sageli (30–79%)
Small cerebellum	Sageli (30–79%)
Babinski sign	Pole registreeritud
Intellectual disability	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Frequent falls	Sageli (30–79%)
Generalized low muscle tone in neonate	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Spastic dysarthria	Sageli (30–79%)
Difficulty in standing	Pole registreeritud
Low muscle tone, in neonatal onset	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Cross-eyed	Sageli (30–79%)
Saccadic smooth pursuit interruptions	Sageli (30–79%)
Slow eye movements	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Pole registreeritud

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Poor swallowing	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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