Traits

Traits linked to ROBO4

roundabout guidance receptor 4

The Human Phenotype Ontology links 14 traits to ROBO4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic valve has two leaflets rather than three	Always
Aortic regurgitation	Very often (80–99%)
Aortic valve calcification	Very often (80–99%)
Bulge in wall of root of large artery that carries blood away from heart	Very often (80–99%)
Heart murmur	Very often (80–99%)
Narrowing of aorta	Very often (80–99%)
Narrowing of aortic valve	Very often (80–99%)
Thoracic aorta calcification	Very often (80–99%)
Aortic arch aneurysm	Often (30–79%)
High blood pressure	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Ascending aortic dissection	Sometimes (5–29%)
Abnormal left ventricular outflow tract morphology	Rarely (1–4%)
Underdeveloped left heart	Rarely (1–4%)

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 ROBO4 and how often each is seen. Find out more at hpo.jax.org.

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