Traits

Traits linked to EEF1A2

eukaryotic translation elongation factor 1 alpha 2

The Human Phenotype Ontology links 80 traits to EEF1A2, 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
Aggressive behavior	Always
Autism spectrum disorder	Always
Degeneration of cerebrum	Always
Delayed speech and language development	Always
Difficulty sleeping	Always
Epilepsy	Always
Epileptic encephalopathy	Always
Epileptic spasm	Always
Global developmental delay	Always
Grand mal seizures	Always
Hypsarrhythmia	Always
Incoordination	Always
Intellectual disability, severe	Always
Myoclonic seizure	Always
Typical absence seizure	Always
Unsteady walk	Always
Encephalopathy	Very often (80–99%)
Abnormality of coordination	Often (30–79%)
Ataxia	Often (30–79%)
Decreased reflex response	Often (30–79%)
EEG with multifocal slow activity	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
Hair-pulling	Often (30–79%)
Infantile spasms	Often (30–79%)
Intellectual disability	Often (30–79%)
Loss of developmental milestones	Often (30–79%)
Repetitive movements	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Teeth grinding	Often (30–79%)
Abnormal corpus callosum morphology	Sometimes (5–29%)
Abnormal gait	Sometimes (5–29%)
Abnormal myelination	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Autism	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Diminished deep tendon reflex	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
Involuntary movements	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Mental deterioration	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Repeated seizures without recovery between them	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Depressed nasal bridge	Always
Development of small head that was not present at birth	Always
Downturned corners of mouth	Always
Drooping lower lip	Always
Eye folds	Always
Tented mouth	Always
Downward slanting of the opening between the eyelids	Often (30–79%)
Full cheeks	Often (30–79%)
High palate	Often (30–79%)
Failure of development of between one and six teeth	Sometimes (5–29%)
High forehead	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Always
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Abnormal involuntary eye movements	Rarely (1–4%)
Abnormality of vision	Rarely (1–4%)
Optic atrophy	Rarely (1–4%)
Retina degeneration	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized low muscle tone in neonate	Always
Low muscle tone	Always
Low muscle tone, in neonatal onset	Always
Generalized decreased muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Poor head control	Sometimes (5–29%)
Rigidity	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
Increased muscle tone of arm or leg	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Vacuum extraction	Often (30–79%)
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	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 EEF1A2 and how often each is seen. Find out more at hpo.jax.org.

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