Traits

Traits linked to MTO1

mitochondrial tRNA translation optimization 1

The Human Phenotype Ontology links 34 traits to MTO1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased lactate in body	Always
Metabolic acidosis	Always
Fluid around lungs	Often (30–79%)
High blood ammonia levels	Often (30–79%)
Increased blood alanine	Often (30–79%)
Low blood sugar	Often (30–79%)
Ketonuria	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Encephalopathy	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Ataxia	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Slow heartbeats	Always
Enlarged and thickened heart muscle	Very often (80–99%)
Enlarged heart	Often (30–79%)
Fluid around heart	Often (30–79%)
Wolff-Parkinson-White syndrome	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Faltering weight	Not recorded
Small for gestational age	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex IV	Very often (80–99%)
Decreased activity of mitochondrial complex I	Often (30–79%)
Decreased activity of mitochondrial complex III	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Accumulation of fluid in the abdomen	Often (30–79%)
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Optic atrophy	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 MTO1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test