Kenmerken

Kenmerken gekoppeld aan ZEB2

zinc finger E-box binding homeobox 2

De Human Phenotype Ontology koppelt 193 kenmerken aan ZEB2, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

ZEB2

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

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

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the genitourinary system	Vaak (30–79%)
Abnormality of the reproductive system	Vaak (30–79%)
Hypospadias	Vaak (30–79%)
Loss of bladder control	Vaak (30–79%)
Undescended testes	Vaak (30–79%)
Abnormality of the kidney	Soms (5–29%)
Hydronephrosis	Soms (5–29%)
Multicystic kidney dysplasia	Soms (5–29%)
Pelvic kidney	Soms (5–29%)
Vesicoureteral reflux	Soms (5–29%)
Chordee	Zelden (1–4%)
Cleft of scrotum	Zelden (1–4%)
Double vagina	Zelden (1–4%)
Hydrocele testis	Zelden (1–4%)
Short penis	Zelden (1–4%)
Webbed penis	Zelden (1–4%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the heart	Vaak (30–79%)
Abnormal pulmonary valve morphology	Soms (5–29%)
Abnormality of lung artery	Soms (5–29%)
Absent spleen	Soms (5–29%)
Aortic valve has two leaflets rather than three	Soms (5–29%)
Narrowing of aorta	Soms (5–29%)
Narrowing of aortic valve	Soms (5–29%)
Narrowing of pulmonic valve	Soms (5–29%)
Tetralogy of Fallot	Soms (5–29%)
Hole in heart wall separating two lower heart chambers	Zelden (1–4%)
Patent ductus arteriosus	Zelden (1–4%)
Pulmonary artery sling	Zelden (1–4%)
An opening in the wall separating the top two chambers of the heart	Niet vastgelegd
Narrowing of lung artery	Niet vastgelegd

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Decreased muscle tone in infant	Vaak (30–79%)
Generalized decreased muscle tone	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Delayed bone maturation	Soms (5–29%)
Flexed joint that cannot be straightened	Soms (5–29%)
Funnel chest	Soms (5–29%)
Permanent flexion of the finger or toe	Soms (5–29%)
Pigeon chest	Soms (5–29%)
Scoliosis	Soms (5–29%)
Hypophosphatemic rickets	Zelden (1–4%)
Generalized increase in muscle cell size	Niet vastgelegd

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Broad big toe	Soms (5–29%)
Bunion	Soms (5–29%)
Dropped arches	Soms (5–29%)
Foot and ankle bend up toward shin of leg	Soms (5–29%)
Inward turned thumb	Soms (5–29%)
Knock knees	Soms (5–29%)
Long big toe	Soms (5–29%)
Long slender fingers	Soms (5–29%)
Long toe	Soms (5–29%)
Ulnar deviation of the hand	Soms (5–29%)
Webbed fingers or toes	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Enlarged colon lacking nerve cells	Vaak (30–79%)
Loss of bowel control	Vaak (30–79%)
Constipation	Soms (5–29%)
Episodic vomiting	Soms (5–29%)
Extra kidney	Soms (5–29%)
Pyloric stenosis	Soms (5–29%)
Duplication of renal pelvis	Zelden (1–4%)
Poor swallowing	Zelden (1–4%)
Abdominal bloating	Niet vastgelegd
Abnormal enteric ganglion morphology	Niet vastgelegd
Vomiting	Niet vastgelegd

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Abnormal skin pigmentation	Heel vaak (80–99%)
Giant pigmented mole	Heel vaak (80–99%)
Mole	Heel vaak (80–99%)
Dry skin	Vaak (30–79%)
Lack of sweating	Vaak (30–79%)
Poor wound healing	Vaak (30–79%)
Cutaneous melanoma	Soms (5–29%)
Excessive hair growth	Soms (5–29%)
Firm lump under the skin	Soms (5–29%)
Itching	Soms (5–29%)
Patchy loss of skin color	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Ears rotated toward back of head	Vaak (30–79%)
Recurrent middle ear infection	Vaak (30–79%)
Uplifted earlobe	Vaak (30–79%)
Sensorineural hearing impairment	Zelden (1–4%)
Cupped ear	Niet vastgelegd
Large earlobe	Niet vastgelegd

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Vaak (30–79%)
Short stature	Vaak (30–79%)

Abnormal cellular phenotype

Kenmerk	Hoe vaak het voorkomt
Decreased circulating antibody level	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Kenmerk	Hoe vaak het voorkomt
Hyphema	Zelden (1–4%)

Abnormality of the breast

Kenmerk	Hoe vaak het voorkomt
Accessory nipple	Niet vastgelegd

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Premature breast development	Zelden (1–4%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Recurrent infections	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Narrowing of windpipe	Zelden (1–4%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan ZEB2 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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