Traits

Traits linked to NFE2L2

NFE2 like bZIP transcription factor 2

The Human Phenotype Ontology links 25 traits to NFE2L2, 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
Mild global developmental delay	Always
Headache	Often (30–79%)
Delayed speech and language development	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Intellectual disability, mild	Not recorded
Leukoencephalopathy	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)
Growth delay	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent chest infections	Always
Recurrent skin infections	Often (30–79%)
Decreased immune function	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Often (30–79%)
Muscle weakness	Often (30–79%)
Tired easily	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased serum creatinine	Always
Decreased blood cystine concentration	Often (30–79%)
Hypohomocysteinemia	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Sometimes (5–29%)
Decreased circulating IgA concentration	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	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 NFE2L2 and how often each is seen. Find out more at hpo.jax.org.

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