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Traits
Traits linked to GET3
guided entry of tail-anchored proteins factor 3, ATPase
The Human Phenotype Ontology links 19 traits to GET3, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Muscular ventricular septal defect | Always |
| Reduced left ventricular ejection fraction | Always |
| Left ventricular systolic dysfunction | Very often (80–99%) |
| Stretched and thinned heart muscle | Very often (80–99%) |
| Abnormal heart rate | Often (30–79%) |
| Cardiac failure | Often (30–79%) |
| Secundum atrial septal defect | Often (30–79%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Increased respiratory rate or depth of breathing | Always |
| Cardiorespiratory arrest | Often (30–79%) |
| Exertional breathlessness | Often (30–79%) |
| Orthopnea | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| EMG abnormality | Sometimes (5–29%) |
| Loss of fat tissue in localized area | Sometimes (5–29%) |
| Muscle tissue disease | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Thromboembolic stroke | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Always |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Fluid retention | 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 GET3 and how often each is seen. Find out more at hpo.jax.org.
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