Traits

Traits linked to SPINT2

serine peptidase inhibitor, Kunitz type 2

The Human Phenotype Ontology links 16 traits to SPINT2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Secretory diarrhea	Always
Abnormal connection between rectum and vagina	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Extra kidney	Rarely (1–4%)
Abdominal bloating	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Blockage of the rear opening of the nasal cavity	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Cleft palate	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Damage to outer layer of the cornea of the eye	Often (30–79%)
Optic disc coloboma	Sometimes (5–29%)
Wide-set eyes	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 ear

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

Abnormality of the genitourinary system

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

Abnormality of the integument

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

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 SPINT2 and how often each is seen. Find out more at hpo.jax.org.

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