Traits

Traits linked to VANGL2

VANGL planar cell polarity protein 2

The Human Phenotype Ontology links 30 traits to VANGL2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Abnormal shape of brain	Often (30–79%)
Absent/small cerebellum	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Holoprosencephaly	Often (30–79%)
Anencephaly	Not recorded
Myelomeningocele	Not recorded
Spina bifida occulta	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormality of cranium	Often (30–79%)
Abnormality of the skull	Often (30–79%)
Decreased size of bone of forehead	Often (30–79%)
Abnormality of facial bones	Sometimes (5–29%)
Cleft lip	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Congenital diaphragmatic hernia	Sometimes (5–29%)
Absence of the sacrum	Not recorded
Asymmetry of spinal facet joints	Not recorded
Fatty lump	Not recorded
Multiple fatty lumps	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Small adrenal glands	Often (30–79%)
Posterior pituitary agenesis	Sometimes (5–29%)
Underdeveloped pituitary gland	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged thymus	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Not recorded

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Not recorded

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 VANGL2 and how often each is seen. Find out more at hpo.jax.org.

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