Tunnused

Geeniga EBF3 seotud tunnused

EBF transcription factor 3

Inimese fenotüübi ontoloogia seostab geeniga EBF3 139 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of digit	Sageli (30–79%)
Curvature of little finger	Mõnikord (5–29%)
Dropped arches	Mõnikord (5–29%)
Gap between 1st and 2nd toes	Mõnikord (5–29%)
Pes valgus	Mõnikord (5–29%)
Short fingers or toes	Mõnikord (5–29%)
Short long bone of foot	Mõnikord (5–29%)
Single transverse palmar crease	Mõnikord (5–29%)
Tapered finger	Mõnikord (5–29%)
Webbed skin of 2nd-3rd toes	Mõnikord (5–29%)
Hip dislocation	Harva (1–4%)
Prominent fingertip pads	Harva (1–4%)
Winged shoulder blade	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Abnormality of the outer ear	Sageli (30–79%)
Ears rotated toward back of head	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Overfolded ears	Sageli (30–79%)
Congenital sensorineural hearing impairment	Mõnikord (5–29%)
Small earlobe	Mõnikord (5–29%)
Abnormal morphology of the vestibule of the inner ear	Harva (1–4%)
Cochlear malformation	Harva (1–4%)
Prominent ear	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cross-eyed	Väga sageli (80–99%)
Astigmatism	Sageli (30–79%)
Deeply set eye	Sageli (30–79%)
Close sighted	Mõnikord (5–29%)
Oculomotor apraxia	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)
Abnormally close eyes	Harva (1–4%)
Bulging eye	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Short penis	Alati
Enuresis	Sageli (30–79%)
Abnormality of the genitourinary system	Mõnikord (5–29%)
Horseshoe kidney	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)
Acute kidney injury	Harva (1–4%)
Functional abnormality of the bladder	Harva (1–4%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Generalized decreased muscle tone	Alati
Decreased muscle tone in infant	Sageli (30–79%)
Low muscle tone in trunk	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Mõnikord (5–29%)
Abnormal formation of the hip	Harva (1–4%)
Excessive inward curvature of lower spine	Harva (1–4%)
Funnel chest	Harva (1–4%)
Poor head control	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Poor swallowing	Alati
Acid reflux	Mõnikord (5–29%)
Feeding difficulties	Mõnikord (5–29%)
Absent anus	Harva (1–4%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Sageli (30–79%)
Low levels of amniotic fluid	Sageli (30–79%)
Premature birth	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Growth delay as children	Sageli (30–79%)
Short stature	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heart	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Inverted nipples	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent infections	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Underdeveloped toenails	Harva (1–4%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga EBF3 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test