Kenmerken

Kenmerken gekoppeld aan EBF3

EBF transcription factor 3

De Human Phenotype Ontology koppelt 139 kenmerken aan EBF3, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

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

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Wide based walk	Altijd
Delayed speech and language development	Heel vaak (80–99%)
Global developmental delay	Heel vaak (80–99%)
Intellectual disability	Heel vaak (80–99%)
Motor delay	Heel vaak (80–99%)
Specific learning disability	Heel vaak (80–99%)
Ataxia	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Cerebellar vermis hypoplasia	Vaak (30–79%)
Delayed fine motor development	Vaak (30–79%)
Inability to coordinate movements when walking	Vaak (30–79%)
Instability or lack of coordination of central trunk muscles	Vaak (30–79%)
Lack of coordination of movement	Vaak (30–79%)
Overactive lower leg reflex	Vaak (30–79%)
Pain insensitivity	Vaak (30–79%)
Poor speech	Vaak (30–79%)
Repetitive movements	Vaak (30–79%)
Speech apraxia	Vaak (30–79%)
Aggressive behavior	Soms (5–29%)
Attention deficit	Soms (5–29%)
Cavum septum pellucidum	Soms (5–29%)
Clonus	Soms (5–29%)
Degeneration of cerebellum	Soms (5–29%)
Difficulty articulating speech	Soms (5–29%)
Difficulty sleeping	Soms (5–29%)
Epilepsy	Soms (5–29%)
Inferior cerebellar vermis hypoplasia	Soms (5–29%)
Lateral ventricle dilatation	Soms (5–29%)
Poor fine motor coordination	Soms (5–29%)
Small cerebellum	Soms (5–29%)
Unsteady walk	Soms (5–29%)
Anxiety	Zelden (1–4%)
Spina bifida occulta	Zelden (1–4%)
Delayed ability to walk	Niet vastgelegd

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Curvature of digit	Vaak (30–79%)
Curvature of little finger	Soms (5–29%)
Dropped arches	Soms (5–29%)
Gap between 1st and 2nd toes	Soms (5–29%)
Pes valgus	Soms (5–29%)
Short fingers or toes	Soms (5–29%)
Short long bone of foot	Soms (5–29%)
Single transverse palmar crease	Soms (5–29%)
Tapered finger	Soms (5–29%)
Webbed skin of 2nd-3rd toes	Soms (5–29%)
Hip dislocation	Zelden (1–4%)
Prominent fingertip pads	Zelden (1–4%)
Winged shoulder blade	Zelden (1–4%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Abnormality of the outer ear	Vaak (30–79%)
Ears rotated toward back of head	Vaak (30–79%)
Low-set ears	Vaak (30–79%)
Overfolded ears	Vaak (30–79%)
Congenital sensorineural hearing impairment	Soms (5–29%)
Small earlobe	Soms (5–29%)
Abnormal morphology of the vestibule of the inner ear	Zelden (1–4%)
Cochlear malformation	Zelden (1–4%)
Prominent ear	Zelden (1–4%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Cross-eyed	Heel vaak (80–99%)
Astigmatism	Vaak (30–79%)
Deeply set eye	Vaak (30–79%)
Close sighted	Soms (5–29%)
Oculomotor apraxia	Soms (5–29%)
Wide-set eyes	Soms (5–29%)
Abnormally close eyes	Zelden (1–4%)
Bulging eye	Zelden (1–4%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Short penis	Altijd
Enuresis	Vaak (30–79%)
Abnormality of the genitourinary system	Soms (5–29%)
Horseshoe kidney	Soms (5–29%)
Undescended testes	Soms (5–29%)
Vesicoureteral reflux	Soms (5–29%)
Acute kidney injury	Zelden (1–4%)
Functional abnormality of the bladder	Zelden (1–4%)

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Generalized decreased muscle tone	Altijd
Decreased muscle tone in infant	Vaak (30–79%)
Low muscle tone in trunk	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Soms (5–29%)
Abnormal formation of the hip	Zelden (1–4%)
Excessive inward curvature of lower spine	Zelden (1–4%)
Funnel chest	Zelden (1–4%)
Poor head control	Niet vastgelegd

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Poor swallowing	Altijd
Acid reflux	Soms (5–29%)
Feeding difficulties	Soms (5–29%)
Absent anus	Zelden (1–4%)

Abnormality of prenatal development or birth

Kenmerk	Hoe vaak het voorkomt
Less than 10 fetal movements in 12 hours	Vaak (30–79%)
Low levels of amniotic fluid	Vaak (30–79%)
Premature birth	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Vaak (30–79%)
Growth delay as children	Vaak (30–79%)
Short stature	Soms (5–29%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
An opening in the wall separating the top two chambers of the heart	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)

Abnormality of the breast

Kenmerk	Hoe vaak het voorkomt
Inverted nipples	Vaak (30–79%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Recurrent infections	Vaak (30–79%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Underdeveloped toenails	Zelden (1–4%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan EBF3 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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