Traits

Traits linked to TRMT10C

tRNA methyltransferase 10C, mitochondrial RNase P subunit

The Human Phenotype Ontology links 25 traits to TRMT10C, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated circulating alanine aminotransferase concentration	Always
Higher than normal levels of lactate in blood	Always
Increased CSF lactate	Always
Increased lactate in body	Always
Elevated circulating aspartate aminotransferase concentration	Often (30–79%)
Elevated gamma-glutamyltransferase level	Often (30–79%)
Elevated lactate:pyruvate ratio	Often (30–79%)
Increased blood alanine	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Acid reflux	Often (30–79%)
Poor suck	Often (30–79%)
Decreased liver function	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex IV	Always
Decreased activity of mitochondrial complex III	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cytochrome C oxidase-negative muscle fibers	Always
Low muscle tone	Always
Ragged-red muscle fibers	Always

Abnormality of the ear

Trait	How often it is seen
Absent otoacoustic emissions	Always
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Frontal polymicrogyria	Often (30–79%)
More grooves in brain	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Left ventricular hypertrophy	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 TRMT10C and how often each is seen. Find out more at hpo.jax.org.

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