Traits

Traits linked to EIF2B1

eukaryotic translation initiation factor 2B subunit alpha

The Human Phenotype Ontology links 27 traits to EIF2B1, 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
Abnormal gait	Not recorded
Can't control feelings	Not recorded
Cerebral hypomyelination	Not recorded
CNS demyelination	Not recorded
Delusions	Not recorded
Difficulty articulating speech	Not recorded
Epilepsy	Not recorded
Gliosis	Not recorded
Lethargy	Not recorded
Leukoencephalopathy	Not recorded
Loss of developmental milestones	Not recorded
Memory impairment	Not recorded
Personality changes	Not recorded
Unsteady walk	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Not recorded
Previous menstrual periods stop	Not recorded
Primary amenorrhea	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Low muscle tone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Head stopped growing	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum progesterone	Not recorded
Primary gonadal insufficiency	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blindness	Sometimes (5–29%)
Optic atrophy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fever	Not recorded

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 EIF2B1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test