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Traits
Traits linked to RRAGC
Ras related GTP binding C
The Human Phenotype Ontology links 27 traits to RRAGC, 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 |
|---|---|
| Cardiac failure | Always |
| Enlarged heart | Always |
| Severely reduced left ventricular ejection fraction | Always |
| Stretched and thinned heart muscle | Always |
| Hole in heart wall separating two lower heart chambers | Often (30–79%) |
| Secundum atrial septal defect | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated circulating alanine aminotransferase concentration | Always |
| Elevated circulating aspartate aminotransferase concentration | Always |
| Higher than normal levels of lactate in blood | Always |
| Low blood sugar | Always |
| High blood ammonia levels | Often (30–79%) |
| Nonimmune hydrops fetalis | Often (30–79%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Clouding of the lens of the eye | Often (30–79%) |
| Microspherophakia | Often (30–79%) |
| Optic nerve hypoplasia | Often (30–79%) |
| Wide-set eyes | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Cavum septum pellucidum | Often (30–79%) |
| Fewer and broader ridges in brain | Often (30–79%) |
| More grooves in brain | Often (30–79%) |
| Subependymal cysts | Often (30–79%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Big calvaria | Always |
| Downward slanting of the opening between the eyelids | Always |
| Prominent forehead | Always |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Premature rupture of membranes | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties | Often (30–79%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Always |
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 RRAGC and how often each is seen. Find out more at hpo.jax.org.
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