Özellikler

ZEB2 ile ilişkili özellikler

zinc finger E-box binding homeobox 2

Human Phenotype Ontology, ZEB2 ile ilişkili 193 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

ZEB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the genitourinary system	Sık (%30–79)
Abnormality of the reproductive system	Sık (%30–79)
Hypospadias	Sık (%30–79)
Loss of bladder control	Sık (%30–79)
Undescended testes	Sık (%30–79)
Abnormality of the kidney	Bazen (%5–29)
Hydronephrosis	Bazen (%5–29)
Multicystic kidney dysplasia	Bazen (%5–29)
Pelvic kidney	Bazen (%5–29)
Vesicoureteral reflux	Bazen (%5–29)
Chordee	Seyrek (%1–4)
Cleft of scrotum	Seyrek (%1–4)
Double vagina	Seyrek (%1–4)
Hydrocele testis	Seyrek (%1–4)
Short penis	Seyrek (%1–4)
Webbed penis	Seyrek (%1–4)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Abnormality of the heart	Sık (%30–79)
Abnormal pulmonary valve morphology	Bazen (%5–29)
Abnormality of lung artery	Bazen (%5–29)
Absent spleen	Bazen (%5–29)
Aortic valve has two leaflets rather than three	Bazen (%5–29)
Narrowing of aorta	Bazen (%5–29)
Narrowing of aortic valve	Bazen (%5–29)
Narrowing of pulmonic valve	Bazen (%5–29)
Tetralogy of Fallot	Bazen (%5–29)
Hole in heart wall separating two lower heart chambers	Seyrek (%1–4)
Patent ductus arteriosus	Seyrek (%1–4)
Pulmonary artery sling	Seyrek (%1–4)
An opening in the wall separating the top two chambers of the heart	Kaydedilmedi
Narrowing of lung artery	Kaydedilmedi

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Decreased muscle tone in infant	Sık (%30–79)
Generalized decreased muscle tone	Sık (%30–79)
Involuntary muscle stiffness, contraction, or spasm	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Delayed bone maturation	Bazen (%5–29)
Flexed joint that cannot be straightened	Bazen (%5–29)
Funnel chest	Bazen (%5–29)
Permanent flexion of the finger or toe	Bazen (%5–29)
Pigeon chest	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Hypophosphatemic rickets	Seyrek (%1–4)
Generalized increase in muscle cell size	Kaydedilmedi

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Broad big toe	Bazen (%5–29)
Bunion	Bazen (%5–29)
Dropped arches	Bazen (%5–29)
Foot and ankle bend up toward shin of leg	Bazen (%5–29)
Inward turned thumb	Bazen (%5–29)
Knock knees	Bazen (%5–29)
Long big toe	Bazen (%5–29)
Long slender fingers	Bazen (%5–29)
Long toe	Bazen (%5–29)
Ulnar deviation of the hand	Bazen (%5–29)
Webbed fingers or toes	Bazen (%5–29)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Enlarged colon lacking nerve cells	Sık (%30–79)
Loss of bowel control	Sık (%30–79)
Constipation	Bazen (%5–29)
Episodic vomiting	Bazen (%5–29)
Extra kidney	Bazen (%5–29)
Pyloric stenosis	Bazen (%5–29)
Duplication of renal pelvis	Seyrek (%1–4)
Poor swallowing	Seyrek (%1–4)
Abdominal bloating	Kaydedilmedi
Abnormal enteric ganglion morphology	Kaydedilmedi
Vomiting	Kaydedilmedi

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Abnormal skin pigmentation	Çok sık (%80–99)
Giant pigmented mole	Çok sık (%80–99)
Mole	Çok sık (%80–99)
Dry skin	Sık (%30–79)
Lack of sweating	Sık (%30–79)
Poor wound healing	Sık (%30–79)
Cutaneous melanoma	Bazen (%5–29)
Excessive hair growth	Bazen (%5–29)
Firm lump under the skin	Bazen (%5–29)
Itching	Bazen (%5–29)
Patchy loss of skin color	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Ears rotated toward back of head	Sık (%30–79)
Recurrent middle ear infection	Sık (%30–79)
Uplifted earlobe	Sık (%30–79)
Sensorineural hearing impairment	Seyrek (%1–4)
Cupped ear	Kaydedilmedi
Large earlobe	Kaydedilmedi

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Short stature	Sık (%30–79)

Abnormal cellular phenotype

Özellik	Ne sıklıkla görüldüğü
Decreased circulating antibody level	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Özellik	Ne sıklıkla görüldüğü
Hyphema	Seyrek (%1–4)

Abnormality of the breast

Özellik	Ne sıklıkla görüldüğü
Accessory nipple	Kaydedilmedi

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Premature breast development	Seyrek (%1–4)

Abnormality of the immune system

Özellik	Ne sıklıkla görüldüğü
Recurrent infections	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Narrowing of windpipe	Seyrek (%1–4)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: ZEB2 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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