Traits

Traits linked to TARS2

threonyl-tRNA synthetase 2, mitochondrial

The Human Phenotype Ontology links 12 traits to TARS2, 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 cerebrum	Always
Epilepsy	Always
Global developmental delay	Always
Increased cerebral lipofuscin	Always
Poor eye contact	Always
Underdevelopment of part of brain called corpus callosum	Always

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Hyperprolinemia	Always
Increased blood alanine	Always
Fatty infiltration of liver	Not recorded

Abnormality of limbs

Trait	How often it is seen
Increased muscle tone of arm or leg	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Always

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 TARS2 and how often each is seen. Find out more at hpo.jax.org.

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