Traits

Traits linked to NUP37

nucleoporin 37

The Human Phenotype Ontology links 38 traits to NUP37, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis hypoplasia	Always
Intellectual disability	Always
Global developmental delay	Very often (80–99%)
Gray matter heterotopia	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Increased reflexes	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Headache	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Abnormality of the nervous system	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Focal segmental glomerulosclerosis	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Diffuse mesangial sclerosis	Sometimes (5–29%)
Minimal change glomerulonephritis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Small head present at birth	Always
Abnormally small head	Very often (80–99%)
Sloping forehead	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Periorbital edema	Often (30–79%)

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 the digestive system

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

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal cortical bone morphology	Often (30–79%)

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 NUP37 and how often each is seen. Find out more at hpo.jax.org.

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