Traits

Traits linked to IREB2

iron responsive element binding protein 2

The Human Phenotype Ontology links 29 traits to IREB2, 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
Absent speech development	Always
Babinski sign	Always
Bilateral tonic-clonic seizure with generalized onset	Always
Cerebral palsy	Always
Cerebral white matter atrophy	Always
Chorea	Always
Choreoathetosis	Always
Disorder of involuntary muscle movements	Always
Increased reflexes	Always
Poor eye contact	Always
Profound global developmental delay	Always
Reduced cerebral white matter volume	Always
Delayed myelination	Not recorded
Dystonia	Not recorded
EEG abnormality	Not recorded
Epilepsy	Not recorded
Global developmental delay	Not recorded
Orofacial dyskinesia	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone in trunk	Always
Poor head control	Always
Spasticity and rigidity of muscles	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hypochromic anemia	Always
Microcytic anemia	Always

Abnormality of head or neck

Trait	How often it is seen
Midface retrusion	Always
Short philtrum	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always

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 IREB2 and how often each is seen. Find out more at hpo.jax.org.

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