Traits

Traits linked to ARF1

ARF GTPase 1

The Human Phenotype Ontology links 24 traits to ARF1, 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
Global developmental delay	Always
Abnormal shape of nervous system	Often (30–79%)
Cerebellar vermis atrophy	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epilepsy	Often (30–79%)
Periventricular heterotopia	Often (30–79%)
Periventricular nodular heterotopia	Often (30–79%)
Reduced cerebral white matter volume	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Hernia	Very often (80–99%)
Scoliosis	Very often (80–99%)
Double-Jointed	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Shoulder dislocation	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart valve morphology	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Very often (80–99%)
Pyloric stenosis	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding tendency	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Dislocated kneecap	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Thin skin	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 ARF1 and how often each is seen. Find out more at hpo.jax.org.

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