Traits

Traits linked to STX11

syntaxin 11

The Human Phenotype Ontology links 50 traits to STX11, by body system: features seen in people with one of the gene's rare conditions.

STX11

Abnormality of blood and blood-forming tissues

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

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Always
Fever	Always
Increased plasma triglycerides	Always
Elevated serum ferritin	Very often (80–99%)
High liver enzymes	Very often (80–99%)
Low albumin	Very often (80–99%)
Fluid retention	Often (30–79%)

Abnormality of the digestive system

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

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal natural killer cell physiology	Often (30–79%)
Decreased circulating antibody level	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Always
Swollen lymph nodes	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Functional motor deficit	Sometimes (5–29%)
Low muscle tone	Not recorded

Abnormality of head or neck

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

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Rarely (1–4%)

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 respiratory system

Trait	How often it is seen
Abnormality of the respiratory system	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 STX11 and how often each is seen. Find out more at hpo.jax.org.

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