Traits

Traits linked to RAC3

Rac family small GTPase 3

The Human Phenotype Ontology links 26 traits to RAC3, 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
Little lower jaw	Always
Long eyelashes	Always
Long philtrum	Always
Midface retrusion	Always
Nasal tip, upturned	Always
Short nose	Always
Wide nasal bridge	Always
Unilambdoid synostosis	Sometimes (5–29%)
Asymmetry of the posterior head	Not recorded
Broad head shape	Not recorded
Broad philtrum	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability, severe	Always
Underdevelopment of part of brain called corpus callosum	Always
Epilepsy	Often (30–79%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Agenesis of corpus callosum	Not recorded
Ventriculomegaly	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Always
Ulnar deviation of the wrist	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Always
Wide-set eyes	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Underdeveloped female external genitalia	Always
Undescended testes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Scoliosis	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 RAC3 and how often each is seen. Find out more at hpo.jax.org.

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