Traits

Traits linked to TGFBR3

transforming growth factor beta receptor 3

The Human Phenotype Ontology links 15 traits to TGFBR3, 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
Cerebral berry aneurysm	Always
Abnormal circle of Willis morphology	Often (30–79%)
High blood pressure	Often (30–79%)
Mini stroke	Often (30–79%)
Narrowing and hardening of arteries	Often (30–79%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Tear in inner wall of large artery that carries blood away from heart	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal shape of brainstem	Often (30–79%)
Epilepsy	Often (30–79%)
Weakness of one side of body	Often (30–79%)
Encephalomalacia	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding within the skull	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Partial loss of field of vision	Often (30–79%)
Oculomotor nerve palsy	Sometimes (5–29%)

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 TGFBR3 and how often each is seen. Find out more at hpo.jax.org.

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