Traits

Traits linked to TDP2

tyrosyl-DNA phosphodiesterase 2

The Human Phenotype Ontology links 12 traits to TDP2, 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
Epilepsy	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Ataxia	Often (30–79%)
Excessive daytime sleepiness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
Broad head shape	Sometimes (5–29%)
Abnormally small head	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Sometimes (5–29%)
Tired easily	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Not recorded

Laboratory abnormality

Trait	How often it is seen
Low blood sodium levels	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 TDP2 and how often each is seen. Find out more at hpo.jax.org.

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