Kjennetegn

Kjennetegn knyttet til ZEB2

zinc finger E-box binding homeobox 2

Human Phenotype Ontology knytter 193 kjennetegn til ZEB2, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

ZEB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Cross-eyed	Ofte (30–79 %)
Deeply set eye	Ofte (30–79 %)
Abnormal eye structure	Noen ganger (5–29 %)
Abnormality of refraction	Noen ganger (5–29 %)
Abnormality of the eye	Noen ganger (5–29 %)
Abnormality of the pupil	Noen ganger (5–29 %)
Abnormally small eyeball	Noen ganger (5–29 %)
Astigmatism	Noen ganger (5–29 %)
Axenfeld anomaly	Noen ganger (5–29 %)
Cat eye	Noen ganger (5–29 %)
Close sighted	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Cornea of eye less than 10mm in diameter	Noen ganger (5–29 %)
Displaced pupil	Noen ganger (5–29 %)
Drooping upper eyelid	Noen ganger (5–29 %)
Hole in the back of the eye	Noen ganger (5–29 %)
Iris degeneration	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Visual impairment	Noen ganger (5–29 %)
Wide-set eyes	Noen ganger (5–29 %)
Birth defect that causes a hole in the innermost layer at the back of the eye	Ikke registrert
Inward turning cross eyed	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the genitourinary system	Ofte (30–79 %)
Abnormality of the reproductive system	Ofte (30–79 %)
Hypospadias	Ofte (30–79 %)
Loss of bladder control	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Abnormality of the kidney	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)
Multicystic kidney dysplasia	Noen ganger (5–29 %)
Pelvic kidney	Noen ganger (5–29 %)
Vesicoureteral reflux	Noen ganger (5–29 %)
Chordee	Sjelden (1–4%)
Cleft of scrotum	Sjelden (1–4%)
Double vagina	Sjelden (1–4%)
Hydrocele testis	Sjelden (1–4%)
Short penis	Sjelden (1–4%)
Webbed penis	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the heart	Ofte (30–79 %)
Abnormal pulmonary valve morphology	Noen ganger (5–29 %)
Abnormality of lung artery	Noen ganger (5–29 %)
Absent spleen	Noen ganger (5–29 %)
Aortic valve has two leaflets rather than three	Noen ganger (5–29 %)
Narrowing of aorta	Noen ganger (5–29 %)
Narrowing of aortic valve	Noen ganger (5–29 %)
Narrowing of pulmonic valve	Noen ganger (5–29 %)
Tetralogy of Fallot	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Sjelden (1–4%)
Patent ductus arteriosus	Sjelden (1–4%)
Pulmonary artery sling	Sjelden (1–4%)
An opening in the wall separating the top two chambers of the heart	Ikke registrert
Narrowing of lung artery	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Decreased muscle tone in infant	Ofte (30–79 %)
Generalized decreased muscle tone	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Delayed bone maturation	Noen ganger (5–29 %)
Flexed joint that cannot be straightened	Noen ganger (5–29 %)
Funnel chest	Noen ganger (5–29 %)
Permanent flexion of the finger or toe	Noen ganger (5–29 %)
Pigeon chest	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Hypophosphatemic rickets	Sjelden (1–4%)
Generalized increase in muscle cell size	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Broad big toe	Noen ganger (5–29 %)
Bunion	Noen ganger (5–29 %)
Dropped arches	Noen ganger (5–29 %)
Foot and ankle bend up toward shin of leg	Noen ganger (5–29 %)
Inward turned thumb	Noen ganger (5–29 %)
Knock knees	Noen ganger (5–29 %)
Long big toe	Noen ganger (5–29 %)
Long slender fingers	Noen ganger (5–29 %)
Long toe	Noen ganger (5–29 %)
Ulnar deviation of the hand	Noen ganger (5–29 %)
Webbed fingers or toes	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Enlarged colon lacking nerve cells	Ofte (30–79 %)
Loss of bowel control	Ofte (30–79 %)
Constipation	Noen ganger (5–29 %)
Episodic vomiting	Noen ganger (5–29 %)
Extra kidney	Noen ganger (5–29 %)
Pyloric stenosis	Noen ganger (5–29 %)
Duplication of renal pelvis	Sjelden (1–4%)
Poor swallowing	Sjelden (1–4%)
Abdominal bloating	Ikke registrert
Abnormal enteric ganglion morphology	Ikke registrert
Vomiting	Ikke registrert

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Abnormal skin pigmentation	Svært ofte (80–99 %)
Giant pigmented mole	Svært ofte (80–99 %)
Mole	Svært ofte (80–99 %)
Dry skin	Ofte (30–79 %)
Lack of sweating	Ofte (30–79 %)
Poor wound healing	Ofte (30–79 %)
Cutaneous melanoma	Noen ganger (5–29 %)
Excessive hair growth	Noen ganger (5–29 %)
Firm lump under the skin	Noen ganger (5–29 %)
Itching	Noen ganger (5–29 %)
Patchy loss of skin color	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Ears rotated toward back of head	Ofte (30–79 %)
Recurrent middle ear infection	Ofte (30–79 %)
Uplifted earlobe	Ofte (30–79 %)
Sensorineural hearing impairment	Sjelden (1–4%)
Cupped ear	Ikke registrert
Large earlobe	Ikke registrert

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight	Ofte (30–79 %)
Short stature	Ofte (30–79 %)

Abnormal cellular phenotype

Kjennetegn	Hvor ofte den forekommer
Decreased circulating antibody level	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Hyphema	Sjelden (1–4%)

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Accessory nipple	Ikke registrert

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Premature breast development	Sjelden (1–4%)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent infections	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Narrowing of windpipe	Sjelden (1–4%)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til ZEB2 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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