Traits

Traits linked to CRB2

crumbs cell polarity complex component 2

The Human Phenotype Ontology links 32 traits to CRB2, 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
Focal segmental glomerulosclerosis	Always
Steroid-resistant nephrotic syndrome	Always
Chronic kidney disease	Often (30–79%)
Hyperechogenic kidneys	Often (30–79%)
Renal corticomedullary cysts	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Diffuse mesangial sclerosis	Sometimes (5–29%)
Minimal change glomerulonephritis	Sometimes (5–29%)
Tubular luminal dilatation	Sometimes (5–29%)
Renal failure	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Ventriculomegaly	Often (30–79%)
Gray matter heterotopia	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Abnormality of the nervous system	Rarely (1–4%)
Too much cerebrospinal fluid in the brain	Not recorded

Laboratory abnormality

Trait	How often it is seen
High urine protein levels	Always
Fluid retention	Very often (80–99%)
Fever	Sometimes (5–29%)
Foamy urine	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal pericardial effusion	Sometimes (5–29%)
Premature birth	Sometimes (5–29%)
High levels of amniotic fluid	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Aneurysm	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Sometimes (5–29%)
Peritonitis	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Periorbital edema	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Postaxial polydactyly	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory tract infection	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 CRB2 and how often each is seen. Find out more at hpo.jax.org.

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