Traits

Traits linked to CEP83

centrosomal protein 83

The Human Phenotype Ontology links 12 traits to CEP83, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Nephronophthisis	Always
Renal tubular atrophy	Always
Stage 5 chronic kidney disease	Always
Thickened glomerular basement membrane	Always
Tubulointerstitial nephritis	Always

Abnormality of the digestive system

Trait	How often it is seen
Slowed or blocked flow of bile from liver	Often (30–79%)
Portal fibrosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Retinitis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	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 CEP83 and how often each is seen. Find out more at hpo.jax.org.

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