Traits

Traits linked to RAP1GDS1

Rap1 GTPase-GDP dissociation stimulator 1

The Human Phenotype Ontology links 26 traits to RAP1GDS1, 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
Abnormally small head	Always
Bulbous nose	Always
Decreased volume of lip	Always
High forehead	Always
Highly arched eyebrow	Always
Receding chin	Always
Short philtrum	Always
Smooth philtrum	Always
Triangular face	Always

Abnormality of the nervous system

Trait	How often it is seen
Aggressive behavior	Always
Communication delay	Always
Decreased reflex response	Always
Delayed CNS myelination	Always
Global developmental delay	Always
Intellectual disability	Always
Motor delay	Always
Grand mal seizures	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Low muscle tone in trunk	Always
Spastic paraplegia	Always

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Horseshoe kidney	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Nasal flaring	Always

Growth abnormality

Trait	How often it is seen
Short stature	Always

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 RAP1GDS1 and how often each is seen. Find out more at hpo.jax.org.

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