Traits

Traits linked to ATP8A2

ATPase phospholipid transporting 8A2

The Human Phenotype Ontology links 21 traits to ATP8A2, 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
Corpus callosum atrophy	Always
Decrease in size of the outer layer of the brain due to loss of brain cells	Always
Degeneration of cerebellum	Always
Difficulty articulating speech	Always
Instability or lack of coordination of central trunk muscles	Always
Intellectual disability	Always
Abnormal gait	Very often (80–99%)
Ataxia	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Abnormality of movement	Often (30–79%)
Cerebral palsy	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to walk	Sometimes (5–29%)
Cerebellar ataxia associated with quadrupedal gait	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Muscle degeneration	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	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 ATP8A2 and how often each is seen. Find out more at hpo.jax.org.

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