Traits

Traits linked to STX3

syntaxin 3

The Human Phenotype Ontology links 25 traits to STX3, 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
Abdominal bloating	Always
Chronic diarrhea	Always
Dependency on parenteral nutrition	Always
Microvillar PAS-positive secretory granules	Always
Microvillus inclusions	Always
Secretory diarrhea	Always
Villous atrophy	Always
Vomiting	Always
Abnormal small intestinal villus morphology	Often (30–79%)
Diarrhea	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Marked vision impairment	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic disc pallor	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney function	Often (30–79%)
Increased calcium level in kidney	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Permanent enlargement of the airways of the lungs	Always
Respiratory tract infection	Always

Laboratory abnormality

Trait	How often it is seen
Metabolic acidosis	Always
Dehydration	Often (30–79%)

Abnormality of head or neck

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

Abnormality of the cardiovascular system

Trait	How often it is seen
Depleted blood volume	Often (30–79%)

Abnormality of the immune system

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

Abnormality of the integument

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteopenia	Always

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	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 STX3 and how often each is seen. Find out more at hpo.jax.org.

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