Traits

Traits linked to UNC93B1

unc-93B1 regulator of TLR signaling

The Human Phenotype Ontology links 32 traits to UNC93B1, 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	Very often (80–99%)
CSF lymphocytic pleiocytosis	Very often (80–99%)
Disturbances of consciousness	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Abnormal speech pattern	Often (30–79%)
Epilepsy	Often (30–79%)
Headache	Often (30–79%)
Loss of consciousness	Often (30–79%)
Addictive alcohol use	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Excessive daytime sleepiness	Sometimes (5–29%)
Focal aware seizure	Sometimes (5–29%)
Focal impaired awareness seizure	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Increased CSF protein concentration	Often (30–79%)
Low blood sodium levels	Often (30–79%)
Brain swelling	Sometimes (5–29%)
Elevated circulating C-reactive protein concentration	Sometimes (5–29%)
Low glucose levels in cerebral spinal fluid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Sometimes (5–29%)
HSV encephalitis	Not recorded
Susceptibility to herpesvirus	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Often (30–79%)
Increased blood neutrophil counts	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Chills	Sometimes (5–29%)

Abnormality of head or neck

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

Abnormality of the digestive system

Trait	How often it is seen
Nausea and vomiting	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Functional motor deficit	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure requiring assisted ventilation	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 UNC93B1 and how often each is seen. Find out more at hpo.jax.org.

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