Traits

Traits linked to EIF5A

eukaryotic translation initiation factor 5A

The Human Phenotype Ontology links 39 traits to EIF5A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Broad eyebrow	Often (30–79%)
Bulbous nose	Often (30–79%)
Eye folds	Often (30–79%)
Little lower jaw	Often (30–79%)
Small head present at birth	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Broad opening between the eyelids	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Decreased size of lower eyelid	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Sparse scalp hair	Sometimes (5–29%)
Underdeveloped tissue around nostril	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Conductive deafness	Sometimes (5–29%)
Cupped ear	Sometimes (5–29%)
Long ear	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Often (30–79%)
Low muscle tone	Sometimes (5–29%)
Low muscle tone, in neonatal onset	Sometimes (5–29%)
Lumbar hemivertebrae	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Often (30–79%)
Flexion contracture of toe	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Sometimes (5–29%)
Premature breast development	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Faltering weight	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal ascites	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Underdeveloped toenails	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Sometimes (5–29%)

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 EIF5A 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