Požymiai

Su EBF3 susiję požymiai

EBF transcription factor 3

Žmogaus fenotipo ontologija sieja 139 požymių su EBF3, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

EBF3

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Curvature of digit	Dažnai (30–79%)
Curvature of little finger	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Gap between 1st and 2nd toes	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Short long bone of foot	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Tapered finger	Kartais (5–29%)
Webbed skin of 2nd-3rd toes	Kartais (5–29%)
Hip dislocation	Retai (1–4 %)
Prominent fingertip pads	Retai (1–4 %)
Winged shoulder blade	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Abnormality of the outer ear	Dažnai (30–79%)
Ears rotated toward back of head	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Overfolded ears	Dažnai (30–79%)
Congenital sensorineural hearing impairment	Kartais (5–29%)
Small earlobe	Kartais (5–29%)
Abnormal morphology of the vestibule of the inner ear	Retai (1–4 %)
Cochlear malformation	Retai (1–4 %)
Prominent ear	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Cross-eyed	Labai dažnai (80–99%)
Astigmatism	Dažnai (30–79%)
Deeply set eye	Dažnai (30–79%)
Close sighted	Kartais (5–29%)
Oculomotor apraxia	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)
Abnormally close eyes	Retai (1–4 %)
Bulging eye	Retai (1–4 %)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Short penis	Visada
Enuresis	Dažnai (30–79%)
Abnormality of the genitourinary system	Kartais (5–29%)
Horseshoe kidney	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Acute kidney injury	Retai (1–4 %)
Functional abnormality of the bladder	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Generalized decreased muscle tone	Visada
Decreased muscle tone in infant	Dažnai (30–79%)
Low muscle tone in trunk	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Kartais (5–29%)
Abnormal formation of the hip	Retai (1–4 %)
Excessive inward curvature of lower spine	Retai (1–4 %)
Funnel chest	Retai (1–4 %)
Poor head control	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Poor swallowing	Visada
Acid reflux	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)
Absent anus	Retai (1–4 %)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Dažnai (30–79%)
Low levels of amniotic fluid	Dažnai (30–79%)
Premature birth	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Growth delay as children	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Inverted nipples	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent infections	Dažnai (30–79%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Underdeveloped toenails	Retai (1–4 %)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su EBF3 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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