Traits

Traits linked to ARL3

ARF like GTPase 3

The Human Phenotype Ontology links 86 traits to ARL3, 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
Difficulties with night vision	Always
Posterior subcapsular cataract	Always
Rod-cone dystrophy	Always
Spicular pigmentation of the retina	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%)
Limited peripheral vision	Very often (80–99%)
Oculomotor apraxia	Very often (80–99%)
Optic atrophy	Very often (80–99%)
Progressive night blindness	Very often (80–99%)
Retina degeneration	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%)
Eye floaters	Often (30–79%)
Eye muscle paralysis	Often (30–79%)
Glaucoma	Often (30–79%)
Loss of peripheral vision	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%)
Retinal atrophy	Often (30–79%)
Abnormal color vision	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Photopsia	Sometimes (5–29%)
Asteroid hyalosis	Not recorded
Progressive loss of vision	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Cerebellar vermis hypoplasia	Always
Elongated superior cerebellar peduncle	Always
Global developmental delay	Always
Molar tooth sign on MRI	Always
Intellectual disability	Very often (80–99%)
Abnormal gait	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Pauses in breathing while sleeping	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Decreased width of the skull	Often (30–79%)
Long face	Often (30–79%)
Cleft of the mouth	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Corners of eye widely separated	Not recorded
Depressed nasal bridge	Not recorded
Monobrow	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of retina blood vessels	Very often (80–99%)
Narrowing of blood vessels in back of eye	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)
Renal fibrosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Single transverse palmar crease	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%)
Low-set ears	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Very often (80–99%)
Apnea	Very often (80–99%)
Episodic tachypnea	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Abnormality of temperature regulation	Often (30–79%)
Hyperinsulinemia	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)

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 ARL3 and how often each is seen. Find out more at hpo.jax.org.

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