Traits

Traits linked to TSEN15

tRNA splicing endonuclease subunit 15

The Human Phenotype Ontology links 56 traits to TSEN15, 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
Delayed fine motor development	Always
Delayed speech and language development	Always
Extra-axial cerebrospinal fluid accumulation	Always
Global developmental delay	Always
Hypoplasia of the pons	Always
Intellectual disability	Always
Small cerebellum	Always
Cerebellar vermis hypoplasia	Very often (80–99%)
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%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Delayed motor skills	Often (30–79%)
Infantile spasms	Often (30–79%)
Irritability	Often (30–79%)
Motor delay	Often (30–79%)
Paroxysmal dystonia	Often (30–79%)
Small brainstem	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Abnormal cortical gyration	Sometimes (5–29%)
Babinski sign	Sometimes (5–29%)
Bilateral tonic-clonic seizure with generalized onset	Sometimes (5–29%)
Decreased reflex response	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Inability to walk	Sometimes (5–29%)
Increased reflexes	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%)

Abnormality of the digestive system

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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Appendicular spasticity	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Viral infection-induced rhabdomyolysis	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Progressively abnormally small cranium	Always
Sloping forehead	Often (30–79%)
Abnormal facial shape	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bilateral single transverse palmar creases	Sometimes (5–29%)
Lower limb hypertonia	Sometimes (5–29%)
Upper limb hypertonia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Decreased clarity of vision	Often (30–79%)
Cerebral visual impairment	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)

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 TSEN15 and how often each is seen. Find out more at hpo.jax.org.

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