Traits

Traits linked to EIF4A3

eukaryotic translation initiation factor 4A3

The Human Phenotype Ontology links 53 traits to EIF4A3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Short big toe	Always
Underdeveloped outer large forearm bone	Always
Absent/small thumb	Very often (80–99%)
Club feet	Very often (80–99%)
Mesomelic leg shortening	Very often (80–99%)
Short 5th finger	Very often (80–99%)
Short calf bone	Very often (80–99%)
Short thumb	Very often (80–99%)
Small hypothenar eminence	Very often (80–99%)
Small thenar eminence	Very often (80–99%)
Tibial deviation of toes	Very often (80–99%)
Attachment of thumb close to wrist	Often (30–79%)
Curvature of little finger	Often (30–79%)
Mesomelic arm shortening	Often (30–79%)
Short shinbone	Often (30–79%)
Small heel bone	Often (30–79%)
Acetabular dysplasia	Sometimes (5–29%)
Fused 4th-5th long bones of hand	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Partial hip dislocation	Sometimes (5–29%)
Radial deviation of the hand	Not recorded
Short finger bones	Not recorded
Shortened long bone of hand	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Little lower jaw	Always
Small retruded chin	Always
Absence of lower central incisor	Very often (80–99%)
Cleft lower jaw	Very often (80–99%)
Narrow mouth	Very often (80–99%)
Absence of lower lateral incisor	Often (30–79%)
Absence of upper lateral incisor	Often (30–79%)
Cleft palate	Often (30–79%)
Pierre-Robin sequence	Often (30–79%)
Absence of premolar	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Cleft of lower gum ridge	Not recorded
High palate	Not recorded
Prominent nose	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Neonatal respiratory distress	Often (30–79%)
Obstructive lung disease	Often (30–79%)
Abnormal aryepiglottic fold morphology	Sometimes (5–29%)
Aplasia/Hypoplasia of the Epiglottis	Sometimes (5–29%)
Aplasia of the epiglottis	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Very often (80–99%)
Low-set ears	Not recorded
Prominent ear	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Specific learning disability	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Often (30–79%)
Abnormality of the voice	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	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 EIF4A3 and how often each is seen. Find out more at hpo.jax.org.

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