Trăsături

Trăsături asociate cu EBF3

EBF transcription factor 3

Human Phenotype Ontology asociază 139 trăsături cu EBF3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

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

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Wide based walk	Întotdeauna
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Ataxia	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Cerebellar vermis hypoplasia	Des (30–79%)
Delayed fine motor development	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Instability or lack of coordination of central trunk muscles	Des (30–79%)
Lack of coordination of movement	Des (30–79%)
Overactive lower leg reflex	Des (30–79%)
Pain insensitivity	Des (30–79%)
Poor speech	Des (30–79%)
Repetitive movements	Des (30–79%)
Speech apraxia	Des (30–79%)
Aggressive behavior	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Cavum septum pellucidum	Uneori (5–29%)
Clonus	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Inferior cerebellar vermis hypoplasia	Uneori (5–29%)
Lateral ventricle dilatation	Uneori (5–29%)
Poor fine motor coordination	Uneori (5–29%)
Small cerebellum	Uneori (5–29%)
Unsteady walk	Uneori (5–29%)
Anxiety	Rar (1–4%)
Spina bifida occulta	Rar (1–4%)
Delayed ability to walk	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of digit	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Gap between 1st and 2nd toes	Uneori (5–29%)
Pes valgus	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Short long bone of foot	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Tapered finger	Uneori (5–29%)
Webbed skin of 2nd-3rd toes	Uneori (5–29%)
Hip dislocation	Rar (1–4%)
Prominent fingertip pads	Rar (1–4%)
Winged shoulder blade	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormality of the outer ear	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Low-set ears	Des (30–79%)
Overfolded ears	Des (30–79%)
Congenital sensorineural hearing impairment	Uneori (5–29%)
Small earlobe	Uneori (5–29%)
Abnormal morphology of the vestibule of the inner ear	Rar (1–4%)
Cochlear malformation	Rar (1–4%)
Prominent ear	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Foarte des (80–99%)
Astigmatism	Des (30–79%)
Deeply set eye	Des (30–79%)
Close sighted	Uneori (5–29%)
Oculomotor apraxia	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Abnormally close eyes	Rar (1–4%)
Bulging eye	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Short penis	Întotdeauna
Enuresis	Des (30–79%)
Abnormality of the genitourinary system	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Acute kidney injury	Rar (1–4%)
Functional abnormality of the bladder	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized decreased muscle tone	Întotdeauna
Decreased muscle tone in infant	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Uneori (5–29%)
Abnormal formation of the hip	Rar (1–4%)
Excessive inward curvature of lower spine	Rar (1–4%)
Funnel chest	Rar (1–4%)
Poor head control	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor swallowing	Întotdeauna
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Absent anus	Rar (1–4%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Des (30–79%)
Low levels of amniotic fluid	Des (30–79%)
Premature birth	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay as children	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Inverted nipples	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Underdeveloped toenails	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu EBF3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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