Traits

Traits linked to SETX

senataxin

The Human Phenotype Ontology links 62 traits to SETX, 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 anterior horn cells	Always
Degeneration of cerebellum	Always
Degeneration of the spinal cord	Always
Difficulty articulating speech	Always
Diminished deep tendon reflex	Always
Impaired proprioception	Always
Peripheral axonal neuropathy	Always
Absent reflexes	Very often (80–99%)
Ataxia	Very often (80–99%)
Cerebellar vermis atrophy	Very often (80–99%)
Inability to coordinate movements when walking	Very often (80–99%)
Nerve damage causing decreased feeling and movement	Very often (80–99%)
Abnormal pyramidal sign	Often (30–79%)
Abnormality of balance	Often (30–79%)
Babinski sign	Often (30–79%)
Decreased touch sensation in extremities	Often (30–79%)
Somatic sensory dysfunction	Often (30–79%)
Tremor	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Choreoathetosis	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Head tremor	Sometimes (5–29%)
Postural tremor	Sometimes (5–29%)
Abnormal lower motor neuron morphology	Not recorded
Axonal degeneration	Not recorded
Chronic axonal neuropathy	Not recorded
Decreased compound muscle action potential amplitude	Not recorded
Decreased motor nerve conduction velocity	Not recorded
Diffuse axonal swelling	Not recorded
Impaired distal vibration sensation	Not recorded
Increased reflexes	Not recorded
Limb ataxia	Not recorded
Lou Gehrig's disease	Not recorded
Pallor of dorsal columns of the spinal cord	Not recorded
Peripheral axonal degeneration	Not recorded
Peripheral nerve disease	Not recorded
Pontocerebellar atrophy	Not recorded
Progressive gait ataxia	Not recorded
Twitching	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Distal muscle wasting	Always
Weakness of outermost muscles	Always
Muscle degeneration	Often (30–79%)
Scoliosis	Often (30–79%)
Spastic paraplegia	Sometimes (5–29%)
EMG: positive sharp waves	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Gaze-evoked nystagmus	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Oculomotor apraxia	Often (30–79%)
Saccadic smooth pursuit interruptions	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alpha-fetoprotein concentration	Always
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Elevated serum cholesterol	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased antibody level in blood	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Small dilated blood vessels near membrane covering front of eye and eyelids	Sometimes (5–29%)

Abnormality of limbs

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

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Urinary bladder sphincter dysfunction	Sometimes (5–29%)

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

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