Traits

Traits linked to ZEB2

zinc finger E-box binding homeobox 2

The Human Phenotype Ontology links 193 traits to ZEB2, by body system: features seen in people with one of the gene's rare conditions.

ZEB2

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Intellectual disability, severe	Always
Absent speech development	Very often (80–99%)
Communication delay	Very often (80–99%)
Happy demeanor	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Abnormal corpus callosum morphology	Often (30–79%)
Abnormal hippocampus morphology	Often (30–79%)
Abnormality of the nervous system	Often (30–79%)
Absent/small cerebral white matter	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Atypical absence seizure	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Difficulty sleeping	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Hypoplastic anterior commissure	Often (30–79%)
Lateral ventricle dilatation	Often (30–79%)
Poor fine motor coordination	Often (30–79%)
Repetitive movements	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Wide based walk	Often (30–79%)
Behavioral abnormality	Sometimes (5–29%)
Cerebral white matter hypoplasia	Sometimes (5–29%)
Focal hypointensity of cerebral white matter on MRI	Sometimes (5–29%)
Headache	Sometimes (5–29%)
Impaired pain sensation	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Large basal ganglia	Sometimes (5–29%)
Neurodevelopmental delay	Sometimes (5–29%)
Pressure on spinal cord	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)
Teeth grinding	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Agenesis of cerebellar vermis	Rarely (1–4%)
Cerebellar vermis hypoplasia	Rarely (1–4%)
Chiari type I malformation	Rarely (1–4%)
Enlarged cerebellum	Rarely (1–4%)
More grooves in brain	Rarely (1–4%)
Periventricular heterotopia	Rarely (1–4%)
Poor speech	Rarely (1–4%)
Small cerebellum	Rarely (1–4%)
Motor delay	Not recorded
Ventriculomegaly	Not recorded

Abnormality of head or neck

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

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Deeply set eye	Often (30–79%)
Abnormal eye structure	Sometimes (5–29%)
Abnormality of refraction	Sometimes (5–29%)
Abnormality of the eye	Sometimes (5–29%)
Abnormality of the pupil	Sometimes (5–29%)
Abnormally small eyeball	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Axenfeld anomaly	Sometimes (5–29%)
Cat eye	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cornea of eye less than 10mm in diameter	Sometimes (5–29%)
Displaced pupil	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Hole in the back of the eye	Sometimes (5–29%)
Iris degeneration	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Not recorded
Inward turning cross eyed	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the genitourinary system	Often (30–79%)
Abnormality of the reproductive system	Often (30–79%)
Hypospadias	Often (30–79%)
Loss of bladder control	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormality of the kidney	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)
Pelvic kidney	Sometimes (5–29%)
Vesicoureteral reflux	Sometimes (5–29%)
Chordee	Rarely (1–4%)
Cleft of scrotum	Rarely (1–4%)
Double vagina	Rarely (1–4%)
Hydrocele testis	Rarely (1–4%)
Short penis	Rarely (1–4%)
Webbed penis	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Often (30–79%)
Abnormal pulmonary valve morphology	Sometimes (5–29%)
Abnormality of lung artery	Sometimes (5–29%)
Absent spleen	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Narrowing of aorta	Sometimes (5–29%)
Narrowing of aortic valve	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Rarely (1–4%)
Patent ductus arteriosus	Rarely (1–4%)
Pulmonary artery sling	Rarely (1–4%)
An opening in the wall separating the top two chambers of the heart	Not recorded
Narrowing of lung artery	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Delayed bone maturation	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Permanent flexion of the finger or toe	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Hypophosphatemic rickets	Rarely (1–4%)
Generalized increase in muscle cell size	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad big toe	Sometimes (5–29%)
Bunion	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Foot and ankle bend up toward shin of leg	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Long big toe	Sometimes (5–29%)
Long slender fingers	Sometimes (5–29%)
Long toe	Sometimes (5–29%)
Ulnar deviation of the hand	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Often (30–79%)
Loss of bowel control	Often (30–79%)
Constipation	Sometimes (5–29%)
Episodic vomiting	Sometimes (5–29%)
Extra kidney	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)
Duplication of renal pelvis	Rarely (1–4%)
Poor swallowing	Rarely (1–4%)
Abdominal bloating	Not recorded
Abnormal enteric ganglion morphology	Not recorded
Vomiting	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal skin pigmentation	Very often (80–99%)
Giant pigmented mole	Very often (80–99%)
Mole	Very often (80–99%)
Dry skin	Often (30–79%)
Lack of sweating	Often (30–79%)
Poor wound healing	Often (30–79%)
Cutaneous melanoma	Sometimes (5–29%)
Excessive hair growth	Sometimes (5–29%)
Firm lump under the skin	Sometimes (5–29%)
Itching	Sometimes (5–29%)
Patchy loss of skin color	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Uplifted earlobe	Often (30–79%)
Sensorineural hearing impairment	Rarely (1–4%)
Cupped ear	Not recorded
Large earlobe	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hyphema	Rarely (1–4%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Premature breast development	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Narrowing of windpipe	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to ZEB2 and how often each is seen. Find out more at hpo.jax.org.

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