Traits

Traits linked to TSPOAP1

TSPO associated protein 1

The Human Phenotype Ontology links 48 traits to TSPOAP1, 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
Degeneration of cerebellum	Always
Difficulty articulating speech	Always
Focal dystonia	Always
Generalized dystonia	Always
Laryngeal dystonia	Always
Mental deterioration	Always
Oromandibular dystonia	Always
Abnormality of extrapyramidal motor function	Often (30–79%)
Ataxia	Often (30–79%)
Babinski sign	Often (30–79%)
Brisk reflexes	Often (30–79%)
Decreased muscle movement	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Difficulty performing quick and alternating movements	Often (30–79%)
Grand mal seizures	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Intention tremor	Often (30–79%)
Irritability	Often (30–79%)
Jerking	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Lethargy	Often (30–79%)
Limb dystonia	Often (30–79%)
Motor delay	Often (30–79%)
Oculogyric crisis	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Parkinsonism	Often (30–79%)
Postural tremor	Often (30–79%)
Slow movements	Often (30–79%)
Upper limb postural tremor	Often (30–79%)
Intellectual disability, mild	Sometimes (5–29%)
Progressive brain disease	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Lower limb spasticity	Often (30–79%)
Rigidity	Often (30–79%)
Generalized decreased muscle tone	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Wry neck	Always
Excessive salivation	Often (30–79%)
Retrocollis	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Often (30–79%)
Hypometric saccades	Often (30–79%)
Slow eye movements	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
High-arched foot	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Decreased CSF homovanillic acid concentration	Often (30–79%)
Fever	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Night sweats	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 TSPOAP1 and how often each is seen. Find out more at hpo.jax.org.

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