Traits

Traits linked to TRNT1

tRNA nucleotidyl transferase 1

The Human Phenotype Ontology links 44 traits to TRNT1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

Trait	How often it is seen
Difficulties with night vision	Always
Photoreceptor layer loss on macular OCT	Always
Retinal atrophy	Always
Macular edema	Often (30–79%)
Optic disc pallor	Often (30–79%)
Peripheral retinal atrophy	Often (30–79%)
Rod-cone dystrophy	Often (30–79%)
Spicular pigmentation of the retina	Often (30–79%)
Close sighted	Not recorded
Epiretinal membrane	Not recorded
Retinal pigment epithelial atrophy	Not recorded
Ring scotoma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased mean corpuscular volume	Always
Hypochromic microcytic anemia	Always
Sideroblastic anemia	Always
Low B cell count	Very often (80–99%)
Elliptocytosis	Often (30–79%)
Hypochromia	Often (30–79%)
Poikilocytosis	Often (30–79%)
Unequal size of red blood cells	Often (30–79%)
Low number of red blood cells or hemoglobin	Not recorded
Schistocytosis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)
Ataxia	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Epilepsy	Often (30–79%)
Communicating hydrocephalus	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Delayed motor skills	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal urinary amino-acid findings	Often (30–79%)
Increased lactate in body	Often (30–79%)
Decreased circulating iron concentration	Not recorded
Periodic fever	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Narrowing of blood vessels in back of eye	Often (30–79%)
Disease of the heart muscle	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded
Low muscle tone	Not recorded
Low muscle tone in trunk	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Not recorded

Abnormality of the ear

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

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Always

Growth abnormality

Trait	How often it is seen
Growth delay	Sometimes (5–29%)

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 TRNT1 and how often each is seen. Find out more at hpo.jax.org.

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