Traits

Traits linked to ATP9A

ATPase phospholipid transporting 9A

The Human Phenotype Ontology links 36 traits to ATP9A, 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
Absent speech development	Always
Aggressive behavior	Always
Attention deficit	Always
Delayed speech and language development	Always
Incoordination	Always
Motor delay	Always
Poor fine motor coordination	Always
Receptive language delay	Always
Repetitive movements	Always
Short attention span	Always
Difficulty sleeping	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Depression	Often (30–79%)
Emotional discomfort	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
More active than typical	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Smooth philtrum	Always
Thin red part of the upper lip	Always
Development of small head that was not present at birth	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Decreased knee jerk reflex	Often (30–79%)
Webbed skin of 2nd-3rd toes	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Nausea and vomiting	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle weakness	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay as children	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Secundum atrial septal defect	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	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 ATP9A and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test