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Traits

Traits linked to MT-TI

mitochondrially encoded tRNA-Ile (AUU/C)

The Human Phenotype Ontology links 11 traits to MT-TI, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

TraitHow often it is seen
Involuntary muscle stiffness, contraction, or spasmNot recorded
Muscle tissue diseaseNot recorded
Muscle weaknessNot recorded
Ragged-red muscle fibersNot recorded

Abnormality of the nervous system

TraitHow often it is seen
AtaxiaNot recorded
EpilepsyNot recorded
Generalized myoclonic seizureNot recorded
JerkingNot recorded

Laboratory abnormality

TraitHow often it is seen
Higher than normal levels of lactate in bloodNot recorded
Increased circulating pyruvate concentrationNot recorded

Abnormality of the ear

TraitHow often it is seen
Sensorineural hearing impairmentNot recorded

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 MT-TI and how often each is seen. Find out more at hpo.jax.org.

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