Traits

Traits linked to TTBK2

tau tubulin kinase 2

The Human Phenotype Ontology links 17 traits to TTBK2, 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
Inability to coordinate movements when walking	Always
Increased reflexes	Always
Instability or lack of coordination of central trunk muscles	Always
Progressive cerebellar ataxia	Always
Abnormal gait	Very often (80–99%)
Abnormality of balance	Very often (80–99%)
Limb ataxia	Very often (80–99%)
Abnormal pyramidal sign	Rarely (1–4%)
Dystonia	Rarely (1–4%)
Peripheral neuropathy	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Jerky ocular pursuit movements	Always
Horizontal nystagmus	Very often (80–99%)
Vertical nystagmus	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)

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 TTBK2 and how often each is seen. Find out more at hpo.jax.org.

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