Traits

Traits linked to EBF3

EBF transcription factor 3

The Human Phenotype Ontology links 139 traits to EBF3, 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
Weakness of facial musculature	Always
Abnormal facial shape	Very often (80–99%)
Broad chin	Often (30–79%)
Deep philtrum	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Enlarged cisterna magna	Often (30–79%)
Epicanthus inversus	Often (30–79%)
High forehead	Often (30–79%)
Horizontal eyebrow	Often (30–79%)
Long face	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Oval face	Often (30–79%)
Prominent nasal bridge	Often (30–79%)
Short chin	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Triangular face	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Facial diplegia	Sometimes (5–29%)
Full lower lip	Sometimes (5–29%)
Full upper lip	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Myopathic facies	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Broad head shape	Rarely (1–4%)
Deformity of the skull	Rarely (1–4%)
Frontal bossing	Rarely (1–4%)
Narrow forehead	Rarely (1–4%)
Prominent metopic ridge	Rarely (1–4%)
Short nose	Rarely (1–4%)
Widow's peak	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Wide based walk	Always
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Motor delay	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Ataxia	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Cerebellar vermis hypoplasia	Often (30–79%)
Delayed fine motor development	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Instability or lack of coordination of central trunk muscles	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Pain insensitivity	Often (30–79%)
Poor speech	Often (30–79%)
Repetitive movements	Often (30–79%)
Speech apraxia	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Cavum septum pellucidum	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Degeneration of cerebellum	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Inferior cerebellar vermis hypoplasia	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Poor fine motor coordination	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Unsteady walk	Sometimes (5–29%)
Anxiety	Rarely (1–4%)
Spina bifida occulta	Rarely (1–4%)
Delayed ability to walk	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Short long bone of foot	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)
Webbed skin of 2nd-3rd toes	Sometimes (5–29%)
Hip dislocation	Rarely (1–4%)
Prominent fingertip pads	Rarely (1–4%)
Winged shoulder blade	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Abnormality of the outer ear	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Overfolded ears	Often (30–79%)
Congenital sensorineural hearing impairment	Sometimes (5–29%)
Small earlobe	Sometimes (5–29%)
Abnormal morphology of the vestibule of the inner ear	Rarely (1–4%)
Cochlear malformation	Rarely (1–4%)
Prominent ear	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)
Astigmatism	Often (30–79%)
Deeply set eye	Often (30–79%)
Close sighted	Sometimes (5–29%)
Oculomotor apraxia	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Abnormally close eyes	Rarely (1–4%)
Bulging eye	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Short penis	Always
Enuresis	Often (30–79%)
Abnormality of the genitourinary system	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Acute kidney injury	Rarely (1–4%)
Functional abnormality of the bladder	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Always
Decreased muscle tone in infant	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Abnormal formation of the hip	Rarely (1–4%)
Excessive inward curvature of lower spine	Rarely (1–4%)
Funnel chest	Rarely (1–4%)
Poor head control	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always
Acid reflux	Sometimes (5–29%)
Feeding difficulties	Sometimes (5–29%)
Absent anus	Rarely (1–4%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Often (30–79%)
Low levels of amniotic fluid	Often (30–79%)
Premature birth	Sometimes (5–29%)

Growth abnormality

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

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%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Inverted nipples	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Underdeveloped toenails	Rarely (1–4%)

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 EBF3 and how often each is seen. Find out more at hpo.jax.org.

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