Traits

Traits linked to RNF213

ring finger protein 213

The Human Phenotype Ontology links 7 traits to RNF213, 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
Spider veins	Very often (80–99%)
Abnormality of the cerebral blood vessels	Often (30–79%)
Mini stroke	Not recorded
Moyamoya phenomenon	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Often (30–79%)
Intellectual disability	Often (30–79%)
Ventriculomegaly	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 RNF213 and how often each is seen. Find out more at hpo.jax.org.

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