Traits

Traits linked to POGZ

pogo transposable element derived with ZNF domain

The Human Phenotype Ontology links 157 traits to POGZ, by body system: features seen in people with one of the gene's rare conditions.

POGZ

Abnormality of the nervous system

Trait	How often it is seen
Delayed fine motor development	Always
Small cerebellum	Always
Ventriculomegaly	Always
Delayed motor skills	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epilepsy	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
Low frustration tolerance	Often (30–79%)
More active than typical	Often (30–79%)
Motor delay	Often (30–79%)
Obstructive sleep apnea	Often (30–79%)
Poor social interactions	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Severe expressive language delay	Often (30–79%)
Simplified gyral pattern	Often (30–79%)
Small brainstem	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Bilateral tonic-clonic seizure with generalized onset	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Irritability	Sometimes (5–29%)
Overfriendliness	Sometimes (5–29%)
Repetitive movements	Sometimes (5–29%)
Tic disorder	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Rarely (1–4%)
Degeneration of cerebellum	Rarely (1–4%)
Delayed myelination	Rarely (1–4%)
Hypoplasia of the pons	Rarely (1–4%)
Incoordination	Rarely (1–4%)
Obsessive compulsive behavior	Rarely (1–4%)
Subcortical cerebral atrophy	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal tip	Very often (80–99%)
Exaggerated cupid's bow	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Abnormally large tongue	Often (30–79%)
Abnormally small head	Often (30–79%)
Big lower jaw	Often (30–79%)
Broad forehead	Often (30–79%)
Broad head shape	Often (30–79%)
Broad nasal tip	Often (30–79%)
Dandy-Walker malformation	Often (30–79%)
Decreased facial muscle tone	Often (30–79%)
Decreased volume of lip	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Drooping lower lip	Often (30–79%)
Drooping upper lip	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Midface retrusion	Often (30–79%)
Open mouth	Often (30–79%)
Pear-shaped nose	Often (30–79%)
Pointed chin	Often (30–79%)
Receding chin	Often (30–79%)
Short neck	Often (30–79%)
Short philtrum	Often (30–79%)
Sparse eyebrow	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Wide mouth	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Bifid uvula	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Extra bones within cranial sutures	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)
Enlarged cisterna magna	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Abnormal electroretinogram	Often (30–79%)
Abnormality of visual evoked potentials	Often (30–79%)
Astigmatism	Often (30–79%)
Cat eye	Often (30–79%)
Cerebral visual impairment	Often (30–79%)
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Farsightedness	Often (30–79%)
Optic atrophy	Often (30–79%)
Optic nerve hypoplasia	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Visual impairment	Often (30–79%)
Anisometropia	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Mild myopia	Sometimes (5–29%)
Notched pupil	Sometimes (5–29%)
Rod-cone dystrophy	Sometimes (5–29%)
Blindness	Rarely (1–4%)
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Often (30–79%)
Constipation	Often (30–79%)
Episodic vomiting	Often (30–79%)
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Acid reflux	Sometimes (5–29%)
Chronic constipation	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Poor suck	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Ventral hernia	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Appendicular hypotonia	Often (30–79%)
Decreased muscle tone in infant	Often (30–79%)
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Double-Jointed	Sometimes (5–29%)
Hypoplastic cervical vertebrae	Sometimes (5–29%)
Joint contracture	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad finger	Often (30–79%)
Broad toe	Often (30–79%)
Short fingers or toes	Often (30–79%)
Broad foot	Sometimes (5–29%)
Broad thumb	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormality of the outer ear	Often (30–79%)
Bilateral sensorineural hearing impairment	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Often (30–79%)
Overfolded ears	Often (30–79%)
Recurrent middle ear infection	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Abnormality of the heart	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Obesity	Often (30–79%)
Short stature	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Duplicated collecting system	Often (30–79%)
Undescended testes	Often (30–79%)
Short penis	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Often (30–79%)
Decreased immune function	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Sparse hair	Sometimes (5–29%)
Blotchy loss of skin color	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Hypoglycemic seizures	Often (30–79%)

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 POGZ and how often each is seen. Find out more at hpo.jax.org.

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