Traits

Traits linked to EIF2B5

eukaryotic translation initiation factor 2B subunit epsilon

The Human Phenotype Ontology links 8 traits to EIF2B5, 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
Worsening neurological symptoms	Always
Coma	Often (30–79%)
Enlarged brain	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Dilated third ventricle	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased CSF asialotransferrin to transferrin ratio	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 EIF2B5 and how often each is seen. Find out more at hpo.jax.org.

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