Traits

Traits linked to THAP1

THAP domain containing 1

The Human Phenotype Ontology links 14 traits to THAP1, 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
Dystonia	Very often (80–99%)
Generalized dystonia	Very often (80–99%)
Limb dystonia	Very often (80–99%)
Difficulty articulating speech	Often (30–79%)
Laryngeal dystonia	Often (30–79%)
Lingual dystonia	Often (30–79%)
Oromandibular dystonia	Often (30–79%)
Abnormal craniofacial muscle tone	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Torsion dystonia	Not recorded
Writer's cramp	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Wry neck	Often (30–79%)
Eyelid spasm	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Not recorded

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 THAP1 and how often each is seen. Find out more at hpo.jax.org.

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