Traits

Traits linked to ARHGEF2

Rho/Rac guanine nucleotide exchange factor 2

The Human Phenotype Ontology links 26 traits to ARHGEF2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Long eyelashes	Always
Small head present at birth	Always
Downward slanting of the opening between the eyelids	Often (30–79%)
High palate	Often (30–79%)
Low hairline at back of neck	Often (30–79%)
Long philtrum	Not recorded
Thin red part of the upper lip	Not recorded

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Always
Cross-eyed	Always
Abnormality of visual evoked potentials	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Horizontal pendular nystagmus	Often (30–79%)
Lazy eye	Often (30–79%)
Optic disc pallor	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Decreased reflex response	Always
Delayed speech and language development	Always
Hypoplasia of the pons	Always
Intellectual disability	Always
Abnormal auditory evoked potentials	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Motor delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Frequent falls	Always
Low muscle tone	Always

Abnormality of limbs

Trait	How often it is seen
Broad finger	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Skin rash	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 ARHGEF2 and how often each is seen. Find out more at hpo.jax.org.

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