Traits

Traits linked to CEP290

centrosomal protein 290

The Human Phenotype Ontology links 200 traits to CEP290, by body system: features seen in people with one of the gene's rare conditions.

CEP290

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Always
Decreased clarity of vision	Always
Involuntary, rapid, rhythmic eye movements	Always
Oculomotor apraxia	Always
Rod-cone dystrophy	Always
Visual impairment	Always
Abnormal optic disc morphology	Very often (80–99%)
Abnormal retinal pigmentation	Very often (80–99%)
Cone/cone-rod dystrophy	Very often (80–99%)
Marked vision impairment	Very often (80–99%)
Abnormal chorioretinal morphology	Often (30–79%)
Abnormal color vision	Often (30–79%)
Abnormal electroretinogram	Often (30–79%)
Abnormal full-field electroretinogram	Often (30–79%)
Abnormally small eyeball	Often (30–79%)
Absent/small iris	Often (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Often (30–79%)
Blindness	Often (30–79%)
Blindness present at birth	Often (30–79%)
Bulging cornea	Often (30–79%)
Cat eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Extreme sensitivity of the eyes to light	Often (30–79%)
Farsightedness	Often (30–79%)
Hardening of skin and connective tissue	Often (30–79%)
Optic atrophy	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Slow pupillary light response	Often (30–79%)
Wide-set eyes	Often (30–79%)
Absence of eyeballs	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Hole in the back of the eye	Sometimes (5–29%)
Optic disc drusen	Sometimes (5–29%)
Optic disc pallor	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Aplasia/Hypoplasia of the cerebellar vermis	Always
Ataxia	Always
Global developmental delay	Always
Intellectual disability	Always
Molar tooth sign on MRI	Always
Cerebellar vermis hypoplasia	Very often (80–99%)
Neurodevelopmental delay	Very often (80–99%)
Abnormality of neuronal migration	Often (30–79%)
Autism	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Cognitive impairment	Often (30–79%)
Depression	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%)
Short attention span	Often (30–79%)
Specific learning disability	Often (30–79%)
Abnormal speech pattern	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Anencephaly	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Breathy speech	Sometimes (5–29%)
Can't control feelings	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Agenesis of cerebellar vermis	Not recorded
Meningocele	Not recorded
Thickened superior cerebellar peduncle	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	Always
Stage 5 chronic kidney disease	Always
Chronic kidney disease	Very often (80–99%)
Kidney damage	Very often (80–99%)
Multicystic kidney dysplasia	Very often (80–99%)
Abnormality of the genitourinary system	Often (30–79%)
Ambiguous external genitalia	Often (30–79%)
Early menopause	Often (30–79%)
Nephronophthisis	Often (30–79%)
Renal cortical cysts	Often (30–79%)
Underdeveloped ovary	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)
Absent/small vagina	Sometimes (5–29%)
Decreased testicular size	Sometimes (5–29%)
Double ureter	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Hydrometrocolpos	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Lack of bladder control due to nervous system injury	Sometimes (5–29%)
Male pseudohermaphroditism	Sometimes (5–29%)
Menstrual irregularity	Sometimes (5–29%)
Multiple kidney cysts	Sometimes (5–29%)
Nephrotic syndrome	Sometimes (5–29%)
Polycystic ovaries	Sometimes (5–29%)
Reduced renal corticomedullary differentiation	Sometimes (5–29%)
True hermaphroditism	Sometimes (5–29%)
Urethral atresia	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Cystic kidney disease	Not recorded
Impaired renal concentrating ability	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Encephalocele	Very often (80–99%)
Abnormality of the oral cavity	Often (30–79%)
Abnormality of the sense of smell	Often (30–79%)
Cleft palate	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Dental crowding	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Flat nose	Often (30–79%)
Full cheeks	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Often (30–79%)
Sloping forehead	Often (30–79%)
Aplasia/Hypoplasia of the tongue	Sometimes (5–29%)
Brain tissue sticks out through back of skull	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Decreased size of tooth	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Grooved tongue	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Medial flaring of the eyebrow	Sometimes (5–29%)
Nasal inflammation	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Hyposmia	Not recorded

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%)
Postaxial polydactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Talipes	Often (30–79%)
Bowing of the long bones	Sometimes (5–29%)
Club feet	Sometimes (5–29%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Extra thumb	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Curvature of outermost bone of little finger	Rarely (1–4%)

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%)
Abnormality of the gastrointestinal tract	Sometimes (5–29%)
Cystic liver disease	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Hepatic fibrosis	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)
Pancreatic fibrosis	Sometimes (5–29%)
Celiac disease	Rarely (1–4%)
Inflammation of the large intestine	Rarely (1–4%)
Bile duct proliferation	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Very often (80–99%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
Absent spleen	Sometimes (5–29%)
Accessory spleen	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)
Disease of the heart muscle	Rarely (1–4%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Hole in heart wall separating two lower heart chambers	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Abnormality of bone mineral density	Sometimes (5–29%)
Cone-shaped end part of bone	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased circulating high-density lipoprotein cholesterol	Often (30–79%)
High liver enzymes	Often (30–79%)
Impaired fasting glucose	Often (30–79%)
Increased plasma triglycerides	Often (30–79%)
Body fails to respond to insulin	Sometimes (5–29%)
Fatty infiltration of liver	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Very often (80–99%)
Increased respiratory rate or depth of breathing	Very often (80–99%)
Central apnea	Not recorded
Episodic tachypnea	Not recorded
Impaired breathing in newborn	Not recorded

Abnormality of the ear

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

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Often (30–79%)
Abnormality of the endocrine system	Sometimes (5–29%)
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	Always
Childhood-onset truncal obesity	Very often (80–99%)
Short stature	Very often (80–99%)
Prenatal growth deficiency	Not recorded

Abnormality of prenatal development or birth

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

Abnormality of the immune system

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

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness over body	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 CEP290 and how often each is seen. Find out more at hpo.jax.org.

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