Traits

Traits linked to EIF2B4

eukaryotic translation initiation factor 2B subunit delta

The Human Phenotype Ontology links 12 traits to EIF2B4, 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
Corpus callosum atrophy	Always
Decrease in size of the outer layer of the brain due to loss of brain cells	Always
Leukoencephalopathy	Always
Ventriculomegaly	Always
Delayed ability to walk	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Unsteady walk	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Previous menstrual periods stop	Often (30–79%)
Primary amenorrhea	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	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 EIF2B4 and how often each is seen. Find out more at hpo.jax.org.

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