Traits

Traits linked to RPGRIP1

RPGR interacting protein 1

The Human Phenotype Ontology links 109 traits to RPGRIP1, 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
Abnormal color vision	Always
Abnormal electroretinogram	Always
Abnormal fundus pigmentation	Always
Close sighted	Always
Decreased clarity of vision	Always
Extreme sensitivity of the eyes to light	Always
Farsightedness	Always
Flat cornea	Always
Foveal atrophy	Always
Limited peripheral vision	Always
Macular degeneration	Always
Marked vision impairment	Always
Moderate visual impairment	Always
Progressive loss of vision	Always
Retinal flecks	Always
Slow pupillary light response	Always
Visual acuity no light perception	Always
Abnormal optic disc morphology	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Chorioretinal atrophy	Very often (80–99%)
Cross-eyed	Very often (80–99%)
Difficulties with night vision	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Retina degeneration	Very often (80–99%)
Very low visual acuity	Very often (80–99%)
Abnormal chorioretinal morphology	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Abnormally small eyeball	Often (30–79%)
Absent foveal reflex	Often (30–79%)
Absent/small iris	Often (30–79%)
Blind spot located at fixation point	Often (30–79%)
Bulging cornea	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Color blindness	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Hardening of skin and connective tissue	Often (30–79%)
Macular atrophy	Often (30–79%)
Optic atrophy	Often (30–79%)
Optic disc pallor	Often (30–79%)
Posterior subcapsular cataract	Often (30–79%)
Retinal atrophy	Often (30–79%)
Retinal pigment epithelial mottling	Often (30–79%)
Retinal thinning	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Wide-set eyes	Often (30–79%)
Abnormal vitreous humor morphology	Sometimes (5–29%)
Absence of eyeballs	Sometimes (5–29%)
Asteroid hyalosis	Sometimes (5–29%)
Bull's eye maculopathy	Sometimes (5–29%)
Metamorphopsia	Sometimes (5–29%)
Mildly reduced visual acuity	Sometimes (5–29%)
Optic disc drusen	Sometimes (5–29%)
Outward facing eye ball	Sometimes (5–29%)
Peripheral retinal atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Cone/cone-rod dystrophy	Not recorded
Pendular nystagmus	Not recorded
Severe farsightedness	Not recorded
Undetectable electroretinogram	Not recorded
Undetectable light- and dark-adapted electroretinogram	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of neuronal migration	Often (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Often (30–79%)
Epilepsy	Often (30–79%)
Eye poking	Often (30–79%)
Lobar holoprosencephaly	Often (30–79%)
Paralysis or weakness of one side of body	Often (30–79%)
Anencephaly	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Focal retinal arteriolar constriction	Always
Abnormally small head	Very often (80–99%)
Encephalocele	Very often (80–99%)
Cleft palate	Often (30–79%)
Flat nose	Often (30–79%)
Full cheeks	Often (30–79%)
Little lower jaw	Often (30–79%)
Sloping forehead	Often (30–79%)
Aplasia/Hypoplasia of the tongue	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Grooved tongue	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Multicystic kidney dysplasia	Very often (80–99%)
Ambiguous external genitalia	Often (30–79%)
Undescended testes	Often (30–79%)
Double ureter	Sometimes (5–29%)
Male pseudohermaphroditism	Sometimes (5–29%)
True hermaphroditism	Sometimes (5–29%)
Urethral atresia	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Very often (80–99%)
Extra toe attached near the little toe	Very often (80–99%)
Talipes	Often (30–79%)
Bowing of the long bones	Sometimes (5–29%)
Extra thumb	Sometimes (5–29%)

Abnormality of the cardiovascular system

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

Abnormality of the digestive system

Trait	How often it is seen
Excessive buildup of connective tissue and scarring of liver at birth	Very often (80–99%)
Cystic liver disease	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)
Pancreatic fibrosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Hearing impairment	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 RPGRIP1 and how often each is seen. Find out more at hpo.jax.org.

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