Traits

Traits linked to TSEN2

tRNA splicing endonuclease subunit 2

The Human Phenotype Ontology links 56 traits to TSEN2, 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
Babinski sign	Always
Cerebellar vermis hypoplasia	Always
Chorea	Always
Clonus	Always
Myoclonic seizure	Always
Simplified gyral pattern	Always
Small brainstem	Always
Small cerebellum	Always
Tonic seizure	Always
Choreoathetosis	Very often (80–99%)
Difficulty sleeping	Very often (80–99%)
Epilepsy	Very often (80–99%)
Generalized myoclonic seizure	Very often (80–99%)
Hypoplasia of the ventral pons	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
Dystonia	Often (30–79%)
Extrapyramidal dyskinesia	Often (30–79%)
Infantile spasms	Often (30–79%)
Motor delay	Often (30–79%)
Paroxysmal dystonia	Often (30–79%)
Abnormal cortical gyration	Sometimes (5–29%)
Bilateral tonic-clonic seizure with generalized onset	Sometimes (5–29%)
Degeneration of cerebrum	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Simple febrile seizure	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Widened cerebellar subarachnoid space	Sometimes (5–29%)
Cerebellar cyst	Rarely (1–4%)
Degeneration of cerebellum	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Poor suck	Always
Impaired oropharyngeal swallow response	Very often (80–99%)
Acid reflux	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)
Poor swallowing	Often (30–79%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always
Single transverse palmar crease	Always
Bilateral single transverse palmar creases	Sometimes (5–29%)
Lower limb hypertonia	Sometimes (5–29%)
Upper limb hypertonia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone in trunk	Always
Opisthotonus	Always
Viral infection-induced rhabdomyolysis	Sometimes (5–29%)
Low muscle tone	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Progressively abnormally small cranium	Always
Sloping forehead	Always
Abnormal facial shape	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Visual impairment	Always
Decreased clarity of vision	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Often (30–79%)

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 TSEN2 and how often each is seen. Find out more at hpo.jax.org.

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