특성

ZEB2 연관 특성

zinc finger E-box binding homeobox 2

인간 표현형 온톨로지가 ZEB2에 연결하는 특성은 193개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the genitourinary system

특성	나타나는 빈도
Abnormality of the genitourinary system	자주 (30–79%)
Abnormality of the reproductive system	자주 (30–79%)
Hypospadias	자주 (30–79%)
Loss of bladder control	자주 (30–79%)
Undescended testes	자주 (30–79%)
Abnormality of the kidney	가끔 (5–29%)
Hydronephrosis	가끔 (5–29%)
Multicystic kidney dysplasia	가끔 (5–29%)
Pelvic kidney	가끔 (5–29%)
Vesicoureteral reflux	가끔 (5–29%)
Chordee	드물게 (1–4%)
Cleft of scrotum	드물게 (1–4%)
Double vagina	드물게 (1–4%)
Hydrocele testis	드물게 (1–4%)
Short penis	드물게 (1–4%)
Webbed penis	드물게 (1–4%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
Abnormality of the heart	자주 (30–79%)
Abnormal pulmonary valve morphology	가끔 (5–29%)
Abnormality of lung artery	가끔 (5–29%)
Absent spleen	가끔 (5–29%)
Aortic valve has two leaflets rather than three	가끔 (5–29%)
Narrowing of aorta	가끔 (5–29%)
Narrowing of aortic valve	가끔 (5–29%)
Narrowing of pulmonic valve	가끔 (5–29%)
Tetralogy of Fallot	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	드물게 (1–4%)
Patent ductus arteriosus	드물게 (1–4%)
Pulmonary artery sling	드물게 (1–4%)
An opening in the wall separating the top two chambers of the heart	기록되지 않음
Narrowing of lung artery	기록되지 않음

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Decreased muscle tone in infant	자주 (30–79%)
Generalized decreased muscle tone	자주 (30–79%)
Involuntary muscle stiffness, contraction, or spasm	자주 (30–79%)
Low muscle tone	자주 (30–79%)
Delayed bone maturation	가끔 (5–29%)
Flexed joint that cannot be straightened	가끔 (5–29%)
Funnel chest	가끔 (5–29%)
Permanent flexion of the finger or toe	가끔 (5–29%)
Pigeon chest	가끔 (5–29%)
Scoliosis	가끔 (5–29%)
Hypophosphatemic rickets	드물게 (1–4%)
Generalized increase in muscle cell size	기록되지 않음

Abnormality of limbs

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

Abnormality of the digestive system

특성	나타나는 빈도
Enlarged colon lacking nerve cells	자주 (30–79%)
Loss of bowel control	자주 (30–79%)
Constipation	가끔 (5–29%)
Episodic vomiting	가끔 (5–29%)
Extra kidney	가끔 (5–29%)
Pyloric stenosis	가끔 (5–29%)
Duplication of renal pelvis	드물게 (1–4%)
Poor swallowing	드물게 (1–4%)
Abdominal bloating	기록되지 않음
Abnormal enteric ganglion morphology	기록되지 않음
Vomiting	기록되지 않음

Abnormality of the integument

특성	나타나는 빈도
Abnormal skin pigmentation	매우 자주 (80–99%)
Giant pigmented mole	매우 자주 (80–99%)
Mole	매우 자주 (80–99%)
Dry skin	자주 (30–79%)
Lack of sweating	자주 (30–79%)
Poor wound healing	자주 (30–79%)
Cutaneous melanoma	가끔 (5–29%)
Excessive hair growth	가끔 (5–29%)
Firm lump under the skin	가끔 (5–29%)
Itching	가끔 (5–29%)
Patchy loss of skin color	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Ears rotated toward back of head	자주 (30–79%)
Recurrent middle ear infection	자주 (30–79%)
Uplifted earlobe	자주 (30–79%)
Sensorineural hearing impairment	드물게 (1–4%)
Cupped ear	기록되지 않음
Large earlobe	기록되지 않음

Growth abnormality

특성	나타나는 빈도
Faltering weight	자주 (30–79%)
Short stature	자주 (30–79%)

Abnormal cellular phenotype

특성	나타나는 빈도
Decreased circulating antibody level	가끔 (5–29%)

Abnormality of blood and blood-forming tissues

특성	나타나는 빈도
Hyphema	드물게 (1–4%)

Abnormality of the breast

특성	나타나는 빈도
Accessory nipple	기록되지 않음

Abnormality of the endocrine system

특성	나타나는 빈도
Premature breast development	드물게 (1–4%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent infections	가끔 (5–29%)

Abnormality of the respiratory system

특성	나타나는 빈도
Narrowing of windpipe	드물게 (1–4%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: ZEB2에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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