Tratti

Tratti collegati a ZEB2

zinc finger E-box binding homeobox 2

La Human Phenotype Ontology collega 193 tratti a ZEB2, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

ZEB2

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Delayed speech and language development	Sempre
Intellectual disability, severe	Sempre
Absent speech development	Molto spesso (80–99%)
Communication delay	Molto spesso (80–99%)
Happy demeanor	Molto spesso (80–99%)
Intellectual disability	Molto spesso (80–99%)
Abnormal corpus callosum morphology	Spesso (30–79%)
Abnormal hippocampus morphology	Spesso (30–79%)
Abnormality of the nervous system	Spesso (30–79%)
Absent/small cerebral white matter	Spesso (30–79%)
Agenesis of corpus callosum	Spesso (30–79%)
Atypical absence seizure	Spesso (30–79%)
Delayed ability to walk	Spesso (30–79%)
Difficulty sleeping	Spesso (30–79%)
EEG abnormality	Spesso (30–79%)
Epilepsy	Spesso (30–79%)
Hypoplastic anterior commissure	Spesso (30–79%)
Lateral ventricle dilatation	Spesso (30–79%)
Poor fine motor coordination	Spesso (30–79%)
Repetitive movements	Spesso (30–79%)
Seizure affecting one half of brain	Spesso (30–79%)
Underdevelopment of part of brain called corpus callosum	Spesso (30–79%)
Wide based walk	Spesso (30–79%)
Behavioral abnormality	A volte (5–29%)
Cerebral white matter hypoplasia	A volte (5–29%)
Focal hypointensity of cerebral white matter on MRI	A volte (5–29%)
Headache	A volte (5–29%)
Impaired pain sensation	A volte (5–29%)
Inability to walk	A volte (5–29%)
Increased reflexes	A volte (5–29%)
Large basal ganglia	A volte (5–29%)
Neurodevelopmental delay	A volte (5–29%)
Pressure on spinal cord	A volte (5–29%)
Rise in pressure inside skull	A volte (5–29%)
Teeth grinding	A volte (5–29%)
Too much cerebrospinal fluid in the brain	A volte (5–29%)
Agenesis of cerebellar vermis	Raramente (1–4%)
Cerebellar vermis hypoplasia	Raramente (1–4%)
Chiari type I malformation	Raramente (1–4%)
Enlarged cerebellum	Raramente (1–4%)
More grooves in brain	Raramente (1–4%)
Periventricular heterotopia	Raramente (1–4%)
Poor speech	Raramente (1–4%)
Small cerebellum	Raramente (1–4%)
Motor delay	Non registrato
Ventriculomegaly	Non registrato

Abnormality of head or neck

Tratto	Frequenza di osservazione
Abnormal dental position	Sempre
Low hanging columella	Sempre
Abnormal facial shape	Molto spesso (80–99%)
Abnormally small head	Spesso (30–79%)
Beaked nose	Spesso (30–79%)
Big lower jaw	Spesso (30–79%)
Broad eyebrow	Spesso (30–79%)
Corners of eye widely separated	Spesso (30–79%)
Delayed eruption of teeth	Spesso (30–79%)
Depressed nasal tip	Spesso (30–79%)
Development of small head that was not present at birth	Spesso (30–79%)
Full lower lip	Spesso (30–79%)
Open mouth	Spesso (30–79%)
Pointed chin	Spesso (30–79%)
Short philtrum	Spesso (30–79%)
Wide nasal bridge	Spesso (30–79%)
Abnormal jaw morphology	A volte (5–29%)
Abnormal posterior cranial fossa morphology	A volte (5–29%)
Abnormality of dental shape	A volte (5–29%)
Dental crowding	A volte (5–29%)
Frontal bossing	A volte (5–29%)
Gum enlargement	A volte (5–29%)
Small head present at birth	A volte (5–29%)
Bifid uvula	Raramente (1–4%)
Boxer's nasal deformity	Raramente (1–4%)
Cleft hard palate	Raramente (1–4%)
Cleft palate	Raramente (1–4%)
Eye folds	Raramente (1–4%)
Highly arched eyebrow	Raramente (1–4%)
Right unicoronal synostosis	Raramente (1–4%)
Submucous cleft of soft and hard palate	Raramente (1–4%)
Downward slanting of the opening between the eyelids	Non registrato
Drooling	Non registrato
Prominent nasal tip	Non registrato
Submucous cleft hard palate	Non registrato
Widely spaced teeth	Non registrato

Abnormality of the eye

Tratto	Frequenza di osservazione
Cross-eyed	Spesso (30–79%)
Deeply set eye	Spesso (30–79%)
Abnormal eye structure	A volte (5–29%)
Abnormality of refraction	A volte (5–29%)
Abnormality of the eye	A volte (5–29%)
Abnormality of the pupil	A volte (5–29%)
Abnormally small eyeball	A volte (5–29%)
Astigmatism	A volte (5–29%)
Axenfeld anomaly	A volte (5–29%)
Cat eye	A volte (5–29%)
Close sighted	A volte (5–29%)
Clouding of the lens of the eye	A volte (5–29%)
Cornea of eye less than 10mm in diameter	A volte (5–29%)
Displaced pupil	A volte (5–29%)
Drooping upper eyelid	A volte (5–29%)
Hole in the back of the eye	A volte (5–29%)
Iris degeneration	A volte (5–29%)
Optic atrophy	A volte (5–29%)
Visual impairment	A volte (5–29%)
Wide-set eyes	A volte (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Non registrato
Inward turning cross eyed	Non registrato

Abnormality of the genitourinary system

Tratto	Frequenza di osservazione
Abnormality of the genitourinary system	Spesso (30–79%)
Abnormality of the reproductive system	Spesso (30–79%)
Hypospadias	Spesso (30–79%)
Loss of bladder control	Spesso (30–79%)
Undescended testes	Spesso (30–79%)
Abnormality of the kidney	A volte (5–29%)
Hydronephrosis	A volte (5–29%)
Multicystic kidney dysplasia	A volte (5–29%)
Pelvic kidney	A volte (5–29%)
Vesicoureteral reflux	A volte (5–29%)
Chordee	Raramente (1–4%)
Cleft of scrotum	Raramente (1–4%)
Double vagina	Raramente (1–4%)
Hydrocele testis	Raramente (1–4%)
Short penis	Raramente (1–4%)
Webbed penis	Raramente (1–4%)

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Abnormality of the heart	Spesso (30–79%)
Abnormal pulmonary valve morphology	A volte (5–29%)
Abnormality of lung artery	A volte (5–29%)
Absent spleen	A volte (5–29%)
Aortic valve has two leaflets rather than three	A volte (5–29%)
Narrowing of aorta	A volte (5–29%)
Narrowing of aortic valve	A volte (5–29%)
Narrowing of pulmonic valve	A volte (5–29%)
Tetralogy of Fallot	A volte (5–29%)
Hole in heart wall separating two lower heart chambers	Raramente (1–4%)
Patent ductus arteriosus	Raramente (1–4%)
Pulmonary artery sling	Raramente (1–4%)
An opening in the wall separating the top two chambers of the heart	Non registrato
Narrowing of lung artery	Non registrato

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Decreased muscle tone in infant	Spesso (30–79%)
Generalized decreased muscle tone	Spesso (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Spesso (30–79%)
Low muscle tone	Spesso (30–79%)
Delayed bone maturation	A volte (5–29%)
Flexed joint that cannot be straightened	A volte (5–29%)
Funnel chest	A volte (5–29%)
Permanent flexion of the finger or toe	A volte (5–29%)
Pigeon chest	A volte (5–29%)
Scoliosis	A volte (5–29%)
Hypophosphatemic rickets	Raramente (1–4%)
Generalized increase in muscle cell size	Non registrato

Abnormality of limbs

Tratto	Frequenza di osservazione
Broad big toe	A volte (5–29%)
Bunion	A volte (5–29%)
Dropped arches	A volte (5–29%)
Foot and ankle bend up toward shin of leg	A volte (5–29%)
Inward turned thumb	A volte (5–29%)
Knock knees	A volte (5–29%)
Long big toe	A volte (5–29%)
Long slender fingers	A volte (5–29%)
Long toe	A volte (5–29%)
Ulnar deviation of the hand	A volte (5–29%)
Webbed fingers or toes	A volte (5–29%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Enlarged colon lacking nerve cells	Spesso (30–79%)
Loss of bowel control	Spesso (30–79%)
Constipation	A volte (5–29%)
Episodic vomiting	A volte (5–29%)
Extra kidney	A volte (5–29%)
Pyloric stenosis	A volte (5–29%)
Duplication of renal pelvis	Raramente (1–4%)
Poor swallowing	Raramente (1–4%)
Abdominal bloating	Non registrato
Abnormal enteric ganglion morphology	Non registrato
Vomiting	Non registrato

Abnormality of the integument

Tratto	Frequenza di osservazione
Abnormal skin pigmentation	Molto spesso (80–99%)
Giant pigmented mole	Molto spesso (80–99%)
Mole	Molto spesso (80–99%)
Dry skin	Spesso (30–79%)
Lack of sweating	Spesso (30–79%)
Poor wound healing	Spesso (30–79%)
Cutaneous melanoma	A volte (5–29%)
Excessive hair growth	A volte (5–29%)
Firm lump under the skin	A volte (5–29%)
Itching	A volte (5–29%)
Patchy loss of skin color	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Ears rotated toward back of head	Spesso (30–79%)
Recurrent middle ear infection	Spesso (30–79%)
Uplifted earlobe	Spesso (30–79%)
Sensorineural hearing impairment	Raramente (1–4%)
Cupped ear	Non registrato
Large earlobe	Non registrato

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight	Spesso (30–79%)
Short stature	Spesso (30–79%)

Abnormal cellular phenotype

Tratto	Frequenza di osservazione
Decreased circulating antibody level	A volte (5–29%)

Abnormality of blood and blood-forming tissues

Tratto	Frequenza di osservazione
Hyphema	Raramente (1–4%)

Abnormality of the breast

Tratto	Frequenza di osservazione
Accessory nipple	Non registrato

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Premature breast development	Raramente (1–4%)

Abnormality of the immune system

Tratto	Frequenza di osservazione
Recurrent infections	A volte (5–29%)

Abnormality of the respiratory system

Tratto	Frequenza di osservazione
Narrowing of windpipe	Raramente (1–4%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a ZEB2 e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

Un solo test. Risposte per tutta la vita.

A partire da 449 $Spedizione gratuita · Risultati in 6–8 settimane

Ottieni il mio Genome Test