Traits

Traits linked to TRMT5

tRNA methyltransferase 5

The Human Phenotype Ontology links 39 traits to TRMT5, 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
Babinski sign	Often (30–79%)
Brain degeneration	Often (30–79%)
Decreased reflex response	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Global developmental delay	Often (30–79%)
Increased reflexes	Often (30–79%)
Irritability	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Poor speech	Often (30–79%)
Tremor	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Muscle weakness	Always
Cytochrome C oxidase-negative muscle fibers	Often (30–79%)
Difficulty in standing	Often (30–79%)
Low muscle tone	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Scar tissue replaces healthy tissue in the liver	Always
Feeding difficulties	Often (30–79%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Often (30–79%)
Malabsorption	Often (30–79%)
Nausea and vomiting	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased lactate in body	Always
Glucose in urine	Often (30–79%)
Glucose intolerance	Often (30–79%)

Abnormal cellular phenotype

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

Abnormality of head or neck

Trait	How often it is seen
Narrow mouth	Often (30–79%)
Triangular face	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Always
Breathing difficulty	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated hemoglobin A1c	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Webbed 2nd and 3rd toes	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Blue outer white part of eyeball	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	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 TRMT5 and how often each is seen. Find out more at hpo.jax.org.

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