Trăsături

Trăsături asociate cu ZEB2

zinc finger E-box binding homeobox 2

Human Phenotype Ontology asociază 193 trăsături cu ZEB2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

ZEB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Deeply set eye	Des (30–79%)
Abnormal eye structure	Uneori (5–29%)
Abnormality of refraction	Uneori (5–29%)
Abnormality of the eye	Uneori (5–29%)
Abnormality of the pupil	Uneori (5–29%)
Abnormally small eyeball	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Axenfeld anomaly	Uneori (5–29%)
Cat eye	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Displaced pupil	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Hole in the back of the eye	Uneori (5–29%)
Iris degeneration	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Neînregistrat
Inward turning cross eyed	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the genitourinary system	Des (30–79%)
Abnormality of the reproductive system	Des (30–79%)
Hypospadias	Des (30–79%)
Loss of bladder control	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormality of the kidney	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Multicystic kidney dysplasia	Uneori (5–29%)
Pelvic kidney	Uneori (5–29%)
Vesicoureteral reflux	Uneori (5–29%)
Chordee	Rar (1–4%)
Cleft of scrotum	Rar (1–4%)
Double vagina	Rar (1–4%)
Hydrocele testis	Rar (1–4%)
Short penis	Rar (1–4%)
Webbed penis	Rar (1–4%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Des (30–79%)
Abnormal pulmonary valve morphology	Uneori (5–29%)
Abnormality of lung artery	Uneori (5–29%)
Absent spleen	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of aortic valve	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)
Patent ductus arteriosus	Rar (1–4%)
Pulmonary artery sling	Rar (1–4%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Narrowing of lung artery	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Low muscle tone	Des (30–79%)
Delayed bone maturation	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Permanent flexion of the finger or toe	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Hypophosphatemic rickets	Rar (1–4%)
Generalized increase in muscle cell size	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad big toe	Uneori (5–29%)
Bunion	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Foot and ankle bend up toward shin of leg	Uneori (5–29%)
Inward turned thumb	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Long big toe	Uneori (5–29%)
Long slender fingers	Uneori (5–29%)
Long toe	Uneori (5–29%)
Ulnar deviation of the hand	Uneori (5–29%)
Webbed fingers or toes	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged colon lacking nerve cells	Des (30–79%)
Loss of bowel control	Des (30–79%)
Constipation	Uneori (5–29%)
Episodic vomiting	Uneori (5–29%)
Extra kidney	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Duplication of renal pelvis	Rar (1–4%)
Poor swallowing	Rar (1–4%)
Abdominal bloating	Neînregistrat
Abnormal enteric ganglion morphology	Neînregistrat
Vomiting	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin pigmentation	Foarte des (80–99%)
Giant pigmented mole	Foarte des (80–99%)
Mole	Foarte des (80–99%)
Dry skin	Des (30–79%)
Lack of sweating	Des (30–79%)
Poor wound healing	Des (30–79%)
Cutaneous melanoma	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)
Firm lump under the skin	Uneori (5–29%)
Itching	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Recurrent middle ear infection	Des (30–79%)
Uplifted earlobe	Des (30–79%)
Sensorineural hearing impairment	Rar (1–4%)
Cupped ear	Neînregistrat
Large earlobe	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating antibody level	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

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

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Accessory nipple	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Premature breast development	Rar (1–4%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Narrowing of windpipe	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 ZEB2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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