Traits

Traits linked to TRMT10A

tRNA methyltransferase 10A

The Human Phenotype Ontology links 74 traits to TRMT10A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Small head present at birth	Always
Abnormal facial shape	Often (30–79%)
Low frontal hairline	Often (30–79%)
Short neck	Often (30–79%)
Wide nose	Often (30–79%)
Decreased size of teeth	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Failure of development of more than six teeth	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow face	Sometimes (5–29%)
Narrow forehead	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Round face	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Small face	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
Global developmental delay	Always
Intellectual disability	Always
Brief seizures with staring spells	Often (30–79%)
Poor speech	Often (30–79%)
Brisk reflexes	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
High pitched voice	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Severe demyelination of the white matter	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Wide based walk	Sometimes (5–29%)
Motor delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Often (30–79%)
Osteoporosis	Often (30–79%)
Scoliosis	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Kyphoscoliosis	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)
Rounded shoulders	Sometimes (5–29%)
Spastic paraparesis	Sometimes (5–29%)
Weakness of outermost muscles	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Proportionate short stature	Very often (80–99%)
Small for gestational age	Very often (80–99%)
Decreased body weight	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Severe growth delay in children	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Sometimes (5–29%)
Displacement of the little toe	Sometimes (5–29%)
Pes valgus	Sometimes (5–29%)
Slender finger	Sometimes (5–29%)
Slender toe	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
Hyperinsulinemic hypoglycemia	Always
Low blood sugar	Often (30–79%)
High levels of ketone bodies	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Often (30–79%)
Delayed thelarche	Often (30–79%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Buffalo hump	Often (30–79%)
Fine hair	Sometimes (5–29%)
Sparse hair	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)
Blue outer white part of eyeball	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	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 TRMT10A and how often each is seen. Find out more at hpo.jax.org.

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