Traits

Traits linked to EIF2AK2

eukaryotic translation initiation factor 2 alpha kinase 2

The Human Phenotype Ontology links 40 traits to EIF2AK2, 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
Delayed CNS myelination	Always
Dystonia	Always
Abnormal gait	Very often (80–99%)
Abnormality of movement	Very often (80–99%)
Absent speech development	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Epilepsy	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Inability to walk	Often (30–79%)
Instability or lack of coordination of central trunk muscles	Often (30–79%)
Limb dystonia	Often (30–79%)
Parkinsonism	Often (30–79%)
Slow movements	Often (30–79%)
Tremor	Often (30–79%)
Axial dystonia	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Head titubation	Sometimes (5–29%)
Hemiballismus	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Neonatal seizure	Sometimes (5–29%)
Degeneration of cerebrum	Not recorded
Underdevelopment of part of brain called corpus callosum	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscular abnormality	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Low muscle tone in trunk	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Expressionless face	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Delayed gastric emptying	Sometimes (5–29%)
Loss of bowel control	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Vertical supranuclear gaze palsy	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Often (30–79%)

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 EIF2AK2 and how often each is seen. Find out more at hpo.jax.org.

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