Traits

Traits linked to THAP11

THAP domain containing 11

The Human Phenotype Ontology links 18 traits to THAP11, 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
Ataxia	Always
Difficulty articulating speech	Always
Encephalopathy	Always
Global developmental delay	Always
Inability to coordinate movements when walking	Always
IQ less than 20	Always
Myoclonic seizure	Always
Paralysis of all four limbs	Always
Abnormal pyramidal sign	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Jerking	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Farsightedness	Always
Inward turning cross eyed	Always
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Slow eye movements	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Methylmalonic aciduria	Always

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 THAP11 and how often each is seen. Find out more at hpo.jax.org.

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