Kjennetegn

Kjennetegn knyttet til CEP290

centrosomal protein 290

Human Phenotype Ontology knytter 200 kjennetegn til CEP290, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

CEP290

Abnormality of the eye

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

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Aplasia/Hypoplasia of the cerebellar vermis	Alltid
Ataxia	Alltid
Global developmental delay	Alltid
Intellectual disability	Alltid
Molar tooth sign on MRI	Alltid
Cerebellar vermis hypoplasia	Svært ofte (80–99 %)
Neurodevelopmental delay	Svært ofte (80–99 %)
Abnormality of neuronal migration	Ofte (30–79 %)
Autism	Ofte (30–79 %)
Autism spectrum disorder	Ofte (30–79 %)
Behavioral abnormality	Ofte (30–79 %)
Cognitive impairment	Ofte (30–79 %)
Depression	Ofte (30–79 %)
Epilepsy	Ofte (30–79 %)
Eye poking	Ofte (30–79 %)
Lobar holoprosencephaly	Ofte (30–79 %)
Paralysis or weakness of one side of body	Ofte (30–79 %)
Short attention span	Ofte (30–79 %)
Specific learning disability	Ofte (30–79 %)
Abnormal speech pattern	Noen ganger (5–29 %)
Aggressive behavior	Noen ganger (5–29 %)
Anencephaly	Noen ganger (5–29 %)
Anxiety	Noen ganger (5–29 %)
Aplasia/Hypoplasia of the corpus callosum	Noen ganger (5–29 %)
Breathy speech	Noen ganger (5–29 %)
Can't control feelings	Noen ganger (5–29 %)
Delayed speech and language development	Noen ganger (5–29 %)
Motor delay	Noen ganger (5–29 %)
Too much cerebrospinal fluid in the brain	Noen ganger (5–29 %)
Agenesis of cerebellar vermis	Ikke registrert
Meningocele	Ikke registrert
Thickened superior cerebellar peduncle	Ikke registrert
Underdevelopment of part of brain called corpus callosum	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Renal failure	Alltid
Stage 5 chronic kidney disease	Alltid
Chronic kidney disease	Svært ofte (80–99 %)
Kidney damage	Svært ofte (80–99 %)
Multicystic kidney dysplasia	Svært ofte (80–99 %)
Abnormality of the genitourinary system	Ofte (30–79 %)
Ambiguous external genitalia	Ofte (30–79 %)
Early menopause	Ofte (30–79 %)
Nephronophthisis	Ofte (30–79 %)
Renal cortical cysts	Ofte (30–79 %)
Underdeveloped ovary	Ofte (30–79 %)
Underdeveloped penis	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Absent/small vagina	Noen ganger (5–29 %)
Decreased testicular size	Noen ganger (5–29 %)
Double ureter	Noen ganger (5–29 %)
Horseshoe kidney	Noen ganger (5–29 %)
Hydrometrocolpos	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)
Infertility	Noen ganger (5–29 %)
Lack of bladder control due to nervous system injury	Noen ganger (5–29 %)
Male pseudohermaphroditism	Noen ganger (5–29 %)
Menstrual irregularity	Noen ganger (5–29 %)
Multiple kidney cysts	Noen ganger (5–29 %)
Nephrotic syndrome	Noen ganger (5–29 %)
Polycystic ovaries	Noen ganger (5–29 %)
Reduced renal corticomedullary differentiation	Noen ganger (5–29 %)
True hermaphroditism	Noen ganger (5–29 %)
Urethral atresia	Noen ganger (5–29 %)
Vesicoureteral reflux	Noen ganger (5–29 %)
Cystic kidney disease	Ikke registrert
Impaired renal concentrating ability	Ikke registrert

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Abnormally small head	Svært ofte (80–99 %)
Encephalocele	Svært ofte (80–99 %)
Abnormality of the oral cavity	Ofte (30–79 %)
Abnormality of the sense of smell	Ofte (30–79 %)
Cleft palate	Ofte (30–79 %)
Decreased width of the skull	Ofte (30–79 %)
Dental crowding	Ofte (30–79 %)
Failure of development of between one and six teeth	Ofte (30–79 %)
Flat nose	Ofte (30–79 %)
Full cheeks	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Sloping forehead	Ofte (30–79 %)
Aplasia/Hypoplasia of the tongue	Noen ganger (5–29 %)
Brain tissue sticks out through back of skull	Noen ganger (5–29 %)
Dandy-Walker malformation	Noen ganger (5–29 %)
Decreased size of tooth	Noen ganger (5–29 %)
Depressed nasal bridge	Noen ganger (5–29 %)
Downward slanting of the opening between the eyelids	Noen ganger (5–29 %)
Grooved tongue	Noen ganger (5–29 %)
Highly arched eyebrow	Noen ganger (5–29 %)
Long philtrum	Noen ganger (5–29 %)
Medial flaring of the eyebrow	Noen ganger (5–29 %)
Nasal inflammation	Noen ganger (5–29 %)
Nasal tip, upturned	Noen ganger (5–29 %)
Prominent nasal bridge	Noen ganger (5–29 %)
Receding chin	Noen ganger (5–29 %)
Short neck	Noen ganger (5–29 %)
Hyposmia	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Extra little finger	Svært ofte (80–99 %)
Extra toe attached near the little toe	Svært ofte (80–99 %)
Postaxial polydactyly	Ofte (30–79 %)
Short fingers or toes	Ofte (30–79 %)
Talipes	Ofte (30–79 %)
Bowing of the long bones	Noen ganger (5–29 %)
Club feet	Noen ganger (5–29 %)
Duplication of bones of the toes	Noen ganger (5–29 %)
Extra finger	Noen ganger (5–29 %)
Extra thumb	Noen ganger (5–29 %)
Finger syndactyly	Noen ganger (5–29 %)
Webbed fingers or toes	Noen ganger (5–29 %)
Curvature of outermost bone of little finger	Sjelden (1–4%)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Excessive buildup of connective tissue and scarring of liver at birth	Svært ofte (80–99 %)
Abnormality of the gastrointestinal tract	Noen ganger (5–29 %)
Cystic liver disease	Noen ganger (5–29 %)
Enlarged colon lacking nerve cells	Noen ganger (5–29 %)
Hepatic fibrosis	Noen ganger (5–29 %)
Pancreatic cysts	Noen ganger (5–29 %)
Pancreatic fibrosis	Noen ganger (5–29 %)
Celiac disease	Sjelden (1–4%)
Inflammation of the large intestine	Sjelden (1–4%)
Bile duct proliferation	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
High blood pressure	Svært ofte (80–99 %)
Abnormal cardiovascular system morphology	Noen ganger (5–29 %)
Abnormality of the heart	Noen ganger (5–29 %)
Absent spleen	Noen ganger (5–29 %)
Accessory spleen	Noen ganger (5–29 %)
All organs on wrong side of body	Noen ganger (5–29 %)
Disease of the heart muscle	Sjelden (1–4%)
An opening in the wall separating the top two chambers of the heart	Ikke registrert
Hole in heart wall separating two lower heart chambers	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Low muscle tone	Alltid
Abnormality of bone mineral density	Noen ganger (5–29 %)
Cone-shaped end part of bone	Noen ganger (5–29 %)
Double-Jointed	Noen ganger (5–29 %)
Involuntary muscle stiffness, contraction, or spasm	Noen ganger (5–29 %)
Muscle degeneration	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Generalized decreased muscle tone	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Decreased circulating high-density lipoprotein cholesterol	Ofte (30–79 %)
High liver enzymes	Ofte (30–79 %)
Impaired fasting glucose	Ofte (30–79 %)
Increased plasma triglycerides	Ofte (30–79 %)
Body fails to respond to insulin	Noen ganger (5–29 %)
Fatty infiltration of liver	Noen ganger (5–29 %)
Noninsulin-dependent diabetes	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Apnea	Svært ofte (80–99 %)
Increased respiratory rate or depth of breathing	Svært ofte (80–99 %)
Central apnea	Ikke registrert
Episodic tachypnea	Ikke registrert
Impaired breathing in newborn	Ikke registrert

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Ears rotated toward back of head	Ofte (30–79 %)
Hearing impairment	Noen ganger (5–29 %)
Large ears	Noen ganger (5–29 %)
Middle ear infection	Noen ganger (5–29 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Decreased activity of gonads	Ofte (30–79 %)
Abnormality of the endocrine system	Noen ganger (5–29 %)
Abnormality of the hypothalamus-pituitary axis	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Obesity	Alltid
Childhood-onset truncal obesity	Svært ofte (80–99 %)
Short stature	Svært ofte (80–99 %)
Prenatal growth deficiency	Ikke registrert

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Low levels of amniotic fluid	Ofte (30–79 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Asthma	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Excessive hairiness over body	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til CEP290 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

Én test. En livstid med svar.

Fra 449 $Gratis frakt · Resultater på 6–8 uker

Få mitt Genome Test