Traits

Traits linked to NAE1

NEDD8 activating enzyme E1 subunit 1

The Human Phenotype Ontology links 25 traits to NAE1, 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
Delayed CNS myelination	Always
Global developmental delay	Always
Ongoing loss of nerve cells	Always
Underdevelopment of part of brain called corpus callosum	Always
Epilepsy	Often (30–79%)
Ventriculomegaly	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low solidness and mass of the bones	Always
Double-Jointed	Often (30–79%)
Joint dislocation	Often (30–79%)
Low muscle tone	Often (30–79%)
Joint stiffness	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Often (30–79%)
Decreased circulating IgM concentration	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood leukocyte number	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Always
Recurrent skin infections	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of head or neck

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

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	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 NAE1 and how often each is seen. Find out more at hpo.jax.org.

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