Egenskaper

Egenskaper kopplade till ZEB2

zinc finger E-box binding homeobox 2

Human Phenotype Ontology kopplar 193 egenskaper till ZEB2, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

ZEB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormality of the genitourinary system	Ofta (30–79 %)
Abnormality of the reproductive system	Ofta (30–79 %)
Hypospadias	Ofta (30–79 %)
Loss of bladder control	Ofta (30–79 %)
Undescended testes	Ofta (30–79 %)
Abnormality of the kidney	Ibland (5–29 %)
Hydronephrosis	Ibland (5–29 %)
Multicystic kidney dysplasia	Ibland (5–29 %)
Pelvic kidney	Ibland (5–29 %)
Vesicoureteral reflux	Ibland (5–29 %)
Chordee	Sällan (1–4%)
Cleft of scrotum	Sällan (1–4%)
Double vagina	Sällan (1–4%)
Hydrocele testis	Sällan (1–4%)
Short penis	Sällan (1–4%)
Webbed penis	Sällan (1–4%)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Abnormality of the heart	Ofta (30–79 %)
Abnormal pulmonary valve morphology	Ibland (5–29 %)
Abnormality of lung artery	Ibland (5–29 %)
Absent spleen	Ibland (5–29 %)
Aortic valve has two leaflets rather than three	Ibland (5–29 %)
Narrowing of aorta	Ibland (5–29 %)
Narrowing of aortic valve	Ibland (5–29 %)
Narrowing of pulmonic valve	Ibland (5–29 %)
Tetralogy of Fallot	Ibland (5–29 %)
Hole in heart wall separating two lower heart chambers	Sällan (1–4%)
Patent ductus arteriosus	Sällan (1–4%)
Pulmonary artery sling	Sällan (1–4%)
An opening in the wall separating the top two chambers of the heart	Inte registrerat
Narrowing of lung artery	Inte registrerat

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Decreased muscle tone in infant	Ofta (30–79 %)
Generalized decreased muscle tone	Ofta (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Delayed bone maturation	Ibland (5–29 %)
Flexed joint that cannot be straightened	Ibland (5–29 %)
Funnel chest	Ibland (5–29 %)
Permanent flexion of the finger or toe	Ibland (5–29 %)
Pigeon chest	Ibland (5–29 %)
Scoliosis	Ibland (5–29 %)
Hypophosphatemic rickets	Sällan (1–4%)
Generalized increase in muscle cell size	Inte registrerat

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Broad big toe	Ibland (5–29 %)
Bunion	Ibland (5–29 %)
Dropped arches	Ibland (5–29 %)
Foot and ankle bend up toward shin of leg	Ibland (5–29 %)
Inward turned thumb	Ibland (5–29 %)
Knock knees	Ibland (5–29 %)
Long big toe	Ibland (5–29 %)
Long slender fingers	Ibland (5–29 %)
Long toe	Ibland (5–29 %)
Ulnar deviation of the hand	Ibland (5–29 %)
Webbed fingers or toes	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Enlarged colon lacking nerve cells	Ofta (30–79 %)
Loss of bowel control	Ofta (30–79 %)
Constipation	Ibland (5–29 %)
Episodic vomiting	Ibland (5–29 %)
Extra kidney	Ibland (5–29 %)
Pyloric stenosis	Ibland (5–29 %)
Duplication of renal pelvis	Sällan (1–4%)
Poor swallowing	Sällan (1–4%)
Abdominal bloating	Inte registrerat
Abnormal enteric ganglion morphology	Inte registrerat
Vomiting	Inte registrerat

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Abnormal skin pigmentation	Mycket ofta (80–99 %)
Giant pigmented mole	Mycket ofta (80–99 %)
Mole	Mycket ofta (80–99 %)
Dry skin	Ofta (30–79 %)
Lack of sweating	Ofta (30–79 %)
Poor wound healing	Ofta (30–79 %)
Cutaneous melanoma	Ibland (5–29 %)
Excessive hair growth	Ibland (5–29 %)
Firm lump under the skin	Ibland (5–29 %)
Itching	Ibland (5–29 %)
Patchy loss of skin color	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Ears rotated toward back of head	Ofta (30–79 %)
Recurrent middle ear infection	Ofta (30–79 %)
Uplifted earlobe	Ofta (30–79 %)
Sensorineural hearing impairment	Sällan (1–4%)
Cupped ear	Inte registrerat
Large earlobe	Inte registrerat

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight	Ofta (30–79 %)
Short stature	Ofta (30–79 %)

Abnormal cellular phenotype

Egenskap	Hur ofta den förekommer
Decreased circulating antibody level	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Hyphema	Sällan (1–4%)

Abnormality of the breast

Egenskap	Hur ofta den förekommer
Accessory nipple	Inte registrerat

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Premature breast development	Sällan (1–4%)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Recurrent infections	Ibland (5–29 %)

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Narrowing of windpipe	Sällan (1–4%)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till ZEB2 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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