Traits

Traits linked to MT-TP

mitochondrially encoded tRNA-Pro (CCN)

The Human Phenotype Ontology links 17 traits to MT-TP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG abnormality	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Ragged-red muscle fibers	Very often (80–99%)
Multiple fatty lumps	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Muscle weakness	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of movement	Very often (80–99%)
Ataxia	Very often (80–99%)
Generalized myoclonic seizure	Very often (80–99%)
Cognitive impairment	Often (30–79%)
Epilepsy	Not recorded
Jerking	Not recorded

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Not recorded
Increased circulating pyruvate concentration	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the eye

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

Growth abnormality

Trait	How often it is seen
Short stature	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 MT-TP and how often each is seen. Find out more at hpo.jax.org.

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