Traits

Traits linked to WBP4

WW domain binding protein 4

The Human Phenotype Ontology links 64 traits to WBP4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Deformity of the skull	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
High palate	Often (30–79%)
Narrow forehead	Often (30–79%)
Receding chin	Often (30–79%)
Short philtrum	Often (30–79%)
Tall shaped head	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Cleft palate	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Tented mouth	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Motor delay	Always
Sleep-wake cycle disturbance	Very often (80–99%)
Absent speech development	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Intellectual disability, severe	Often (30–79%)
More active than typical	Often (30–79%)
Repetitive movements	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormal cortical gyration	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Prominent ear	Often (30–79%)
Anteverted ears	Sometimes (5–29%)
Broad inferior crus of antihelix	Sometimes (5–29%)
Linear earlobe crease	Sometimes (5–29%)
Narrow ear canal	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

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%)
Hole in center of heart	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Often (30–79%)
Cross-eyed	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Hydronephrosis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Short stature	Often (30–79%)
Small for gestational age	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Absent anus	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Fine hair	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

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 WBP4 and how often each is seen. Find out more at hpo.jax.org.

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