Traits

Traits linked to STXBP2

syntaxin binding protein 2

The Human Phenotype Ontology links 51 traits to STXBP2, by body system: features seen in people with one of the gene's rare conditions.

STXBP2

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Always
Low platelet count	Always
Abnormality of multiple cell lineages in the bone marrow	Very often (80–99%)
Hemophagocytosis	Very often (80–99%)
Abnormality of the coagulation cascade	Often (30–79%)
Blood spots	Often (30–79%)
Ecchymosis	Often (30–79%)
Hypofibrinogenemia	Often (30–79%)
Low blood neutrophil count	Often (30–79%)
Petechiae	Often (30–79%)
Bruising susceptibility	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Abnormal circulating cytokine concentration	Very often (80–99%)
Abnormality of tumor necrosis factor secretion	Very often (80–99%)
Immune dysregulation	Very often (80–99%)
Increased circulating interferon-gamma concentration	Very often (80–99%)
Increased circulating interleukin 6 concentration	Often (30–79%)
Red scaly skin caused by inflammatory skin disease	Often (30–79%)
Skin rash	Often (30–79%)
Brain inflammation	Sometimes (5–29%)
Maculopapular exanthema	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
CSF pleocytosis	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormality of the nervous system	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Peripheral neuropathy	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Always
Elevated serum ferritin	Very often (80–99%)
High liver enzymes	Very often (80–99%)
Low albumin	Very often (80–99%)
Increased plasma triglycerides	Often (30–79%)
Episodic fever	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Colitis	Always
Cholestatic liver disease	Often (30–79%)
Decreased liver function	Often (30–79%)
Enlarged liver	Often (30–79%)
Jaundice	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Swollen lymph nodes	Always
Enlarged liver and spleen	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Always
Abnormal natural killer cell physiology	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Recurrent colds	Always
Recurrent sinus disease	Always

Abnormality of the ear

Trait	How often it is seen
Low-frequency sensorineural hearing impairment	Always
Sensorineural hearing impairment	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Abnormality in area between air sacs in lung	Always
Abnormality of the respiratory system	Often (30–79%)

Abnormality of the genitourinary system

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

Abnormality of the integument

Trait	How often it is seen
Abnormal skin structure	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Functional motor deficit	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 STXBP2 and how often each is seen. Find out more at hpo.jax.org.

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