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	Hvor ofte det ses
Weakness of facial musculature	Altid
Abnormal facial shape	Meget ofte (80–99 %)
Broad chin	Ofte (30–79 %)
Deep philtrum	Ofte (30–79 %)
Downward slanting of the opening between the eyelids	Ofte (30–79 %)
Enlarged cisterna magna	Ofte (30–79 %)
Epicanthus inversus	Ofte (30–79 %)
High forehead	Ofte (30–79 %)
Horizontal eyebrow	Ofte (30–79 %)
Long face	Ofte (30–79 %)
Nasal tip, upturned	Ofte (30–79 %)
Oval face	Ofte (30–79 %)
Prominent nasal bridge	Ofte (30–79 %)
Short chin	Ofte (30–79 %)
Thin red part of the upper lip	Ofte (30–79 %)
Triangular face	Ofte (30–79 %)
Wide nasal bridge	Ofte (30–79 %)
Abnormally small head	Nogle gange (5–29 %)
Broad forehead	Nogle gange (5–29 %)
Broad nasal tip	Nogle gange (5–29 %)
Cleft palate	Nogle gange (5–29 %)
Downturned corners of mouth	Nogle gange (5–29 %)
Eye folds	Nogle gange (5–29 %)
Facial asymmetry	Nogle gange (5–29 %)
Facial diplegia	Nogle gange (5–29 %)
Full lower lip	Nogle gange (5–29 %)
Full upper lip	Nogle gange (5–29 %)
High palate	Nogle gange (5–29 %)
Little lower jaw	Nogle gange (5–29 %)
Long, narrow head	Nogle gange (5–29 %)
Monobrow	Nogle gange (5–29 %)
Myopathic facies	Nogle gange (5–29 %)
Prominent forehead	Nogle gange (5–29 %)
Prominent nose	Nogle gange (5–29 %)
Smooth philtrum	Nogle gange (5–29 %)
Thick eyebrow	Nogle gange (5–29 %)
Upward slanting of the opening between the eyelids	Nogle gange (5–29 %)
Broad head shape	Sjældent (1–4%)
Deformity of the skull	Sjældent (1–4%)
Frontal bossing	Sjældent (1–4%)
Narrow forehead	Sjældent (1–4%)
Prominent metopic ridge	Sjældent (1–4%)
Short nose	Sjældent (1–4%)
Widow's peak	Sjældent (1–4%)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Wide based walk	Altid
Delayed speech and language development	Meget ofte (80–99 %)
Global developmental delay	Meget ofte (80–99 %)
Intellectual disability	Meget ofte (80–99 %)
Motor delay	Meget ofte (80–99 %)
Specific learning disability	Meget ofte (80–99 %)
Ataxia	Ofte (30–79 %)
Behavioral abnormality	Ofte (30–79 %)
Cerebellar vermis hypoplasia	Ofte (30–79 %)
Delayed fine motor development	Ofte (30–79 %)
Inability to coordinate movements when walking	Ofte (30–79 %)
Instability or lack of coordination of central trunk muscles	Ofte (30–79 %)
Lack of coordination of movement	Ofte (30–79 %)
Overactive lower leg reflex	Ofte (30–79 %)
Pain insensitivity	Ofte (30–79 %)
Poor speech	Ofte (30–79 %)
Repetitive movements	Ofte (30–79 %)
Speech apraxia	Ofte (30–79 %)
Aggressive behavior	Nogle gange (5–29 %)
Attention deficit	Nogle gange (5–29 %)
Cavum septum pellucidum	Nogle gange (5–29 %)
Clonus	Nogle gange (5–29 %)
Degeneration of cerebellum	Nogle gange (5–29 %)
Difficulty articulating speech	Nogle gange (5–29 %)
Difficulty sleeping	Nogle gange (5–29 %)
Epilepsy	Nogle gange (5–29 %)
Inferior cerebellar vermis hypoplasia	Nogle gange (5–29 %)
Lateral ventricle dilatation	Nogle gange (5–29 %)
Poor fine motor coordination	Nogle gange (5–29 %)
Small cerebellum	Nogle gange (5–29 %)
Unsteady walk	Nogle gange (5–29 %)
Anxiety	Sjældent (1–4%)
Spina bifida occulta	Sjældent (1–4%)
Delayed ability to walk	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Curvature of digit	Ofte (30–79 %)
Curvature of little finger	Nogle gange (5–29 %)
Dropped arches	Nogle gange (5–29 %)
Gap between 1st and 2nd toes	Nogle gange (5–29 %)
Pes valgus	Nogle gange (5–29 %)
Short fingers or toes	Nogle gange (5–29 %)
Short long bone of foot	Nogle gange (5–29 %)
Single transverse palmar crease	Nogle gange (5–29 %)
Tapered finger	Nogle gange (5–29 %)
Webbed skin of 2nd-3rd toes	Nogle gange (5–29 %)
Hip dislocation	Sjældent (1–4%)
Prominent fingertip pads	Sjældent (1–4%)
Winged shoulder blade	Sjældent (1–4%)

Abnormality of the ear

Trait	Hvor ofte det ses
Abnormality of the outer ear	Ofte (30–79 %)
Ears rotated toward back of head	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)
Overfolded ears	Ofte (30–79 %)
Congenital sensorineural hearing impairment	Nogle gange (5–29 %)
Small earlobe	Nogle gange (5–29 %)
Abnormal morphology of the vestibule of the inner ear	Sjældent (1–4%)
Cochlear malformation	Sjældent (1–4%)
Prominent ear	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Cross-eyed	Meget ofte (80–99 %)
Astigmatism	Ofte (30–79 %)
Deeply set eye	Ofte (30–79 %)
Close sighted	Nogle gange (5–29 %)
Oculomotor apraxia	Nogle gange (5–29 %)
Wide-set eyes	Nogle gange (5–29 %)
Abnormally close eyes	Sjældent (1–4%)
Bulging eye	Sjældent (1–4%)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Short penis	Altid
Enuresis	Ofte (30–79 %)
Abnormality of the genitourinary system	Nogle gange (5–29 %)
Horseshoe kidney	Nogle gange (5–29 %)
Undescended testes	Nogle gange (5–29 %)
Vesicoureteral reflux	Nogle gange (5–29 %)
Acute kidney injury	Sjældent (1–4%)
Functional abnormality of the bladder	Sjældent (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Generalized decreased muscle tone	Altid
Decreased muscle tone in infant	Ofte (30–79 %)
Low muscle tone in trunk	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Nogle gange (5–29 %)
Abnormal formation of the hip	Sjældent (1–4%)
Excessive inward curvature of lower spine	Sjældent (1–4%)
Funnel chest	Sjældent (1–4%)
Poor head control	Ikke registreret

Abnormality of the digestive system

Trait	Hvor ofte det ses
Poor swallowing	Altid
Acid reflux	Nogle gange (5–29 %)
Feeding difficulties	Nogle gange (5–29 %)
Absent anus	Sjældent (1–4%)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Less than 10 fetal movements in 12 hours	Ofte (30–79 %)
Low levels of amniotic fluid	Ofte (30–79 %)
Premature birth	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight	Ofte (30–79 %)
Growth delay as children	Ofte (30–79 %)
Short stature	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
An opening in the wall separating the top two chambers of the heart	Nogle gange (5–29 %)
Patent ductus arteriosus	Nogle gange (5–29 %)

Abnormality of the breast

Trait	Hvor ofte det ses
Inverted nipples	Ofte (30–79 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Recurrent infections	Ofte (30–79 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Underdeveloped toenails	Sjældent (1–4%)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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