Traits

Traits linked to ARL2BP

ARF like GTPase 2 binding protein

The Human Phenotype Ontology links 40 traits to ARL2BP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Always
Rod-cone dystrophy	Always
Abnormal electroretinogram	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Blindness	Very often (80–99%)
Extreme sensitivity of the eyes to light	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Spicular pigmentation of the retina	Very often (80–99%)
Visual impairment	Very often (80–99%)
Abnormal central response of multifocal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Bulging cornea	Often (30–79%)
Cystoid macular edema	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	Often (30–79%)
Loss of peripheral vision	Often (30–79%)
Macular atrophy	Often (30–79%)
Optic disc drusen	Often (30–79%)
Optic disc pallor	Often (30–79%)
Photoreceptor outer segment loss on macular OCT	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Retinal atrophy	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of retina blood vessels	Very often (80–99%)
All organs on wrong side of body	Often (30–79%)
Narrowing of blood vessels in back of eye	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Decreased nasal nitric oxide	Always
Permanent enlargement of the airways of the lungs	Sometimes (5–29%)
Wet cough	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of head or neck

Trait	How often it is seen
Blockage of nose	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Reduced sperm motility	Always

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Hyperinsulinemia	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 ARL2BP and how often each is seen. Find out more at hpo.jax.org.

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