Traits

Traits linked to EFTUD2

elongation factor Tu GTP binding domain containing 2

The Human Phenotype Ontology links 45 traits to EFTUD2, 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
Cleft palate	Very often (80–99%)
Decreased size of maxilla	Very often (80–99%)
Development of small head that was not present at birth	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Short nose	Very often (80–99%)
Skin tag in front of the ear	Very often (80–99%)
Triangular head shape	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Accessory oral frenulum	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Eye folds	Often (30–79%)
Abnormally small head	Not recorded
Blockage of the rear opening of the nasal cavity	Not recorded
Deep philtrum	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Mandibulofacial dysostosis	Not recorded
Midface retrusion	Not recorded
Nasal tip, upturned	Not recorded
Progressively abnormally small cranium	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormal antihelix morphology	Very often (80–99%)
Abnormality of the outer ear	Very often (80–99%)
Absent tragus	Very often (80–99%)
Low-set ears	Very often (80–99%)
Middle ear malformation	Very often (80–99%)
Small ears	Very often (80–99%)
Underdeveloped tragus	Very often (80–99%)
Absent ear canal	Often (30–79%)
Large earlobe	Often (30–79%)
Overfolded ears	Often (30–79%)
Conductive deafness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Epilepsy	Sometimes (5–29%)
Global developmental delay	Not recorded

Abnormality of limbs

Trait	How often it is seen
Extra thumb	Often (30–79%)
Attachment of thumb close to wrist	Sometimes (5–29%)
Slender finger	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Feeding difficulties in infancy	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)

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 EFTUD2 and how often each is seen. Find out more at hpo.jax.org.

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