Traits

Traits linked to RAPGEF2

Rap guanine nucleotide exchange factor 2

The Human Phenotype Ontology links 10 traits to RAPGEF2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
EEG abnormality	Very often (80–99%)
Hand tremor	Very often (80–99%)
Jerking	Very often (80–99%)
Generalized-onset seizure	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Myoclonic tremor	Not recorded

Abnormality of the eye

Trait	How often it is seen
Amaurosis fugax	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 RAPGEF2 and how often each is seen. Find out more at hpo.jax.org.

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