Traits

Traits linked to NSUN3

NOP2/Sun RNA methyltransferase 3

The Human Phenotype Ontology links 15 traits to NSUN3, 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
Cerebral white matter atrophy	Always
Epilepsy	Always
Global developmental delay	Always
Hyperintensity of cerebral white matter on MRI	Always

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial complex I	Always
Decreased activity of mitochondrial complex III	Always
Decreased activity of mitochondrial complex IV	Always

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Always
Paralysis or weakness of muscles within or surrounding outer part of eye	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle weakness	Always

Laboratory abnormality

Trait	How often it is seen
Higher than normal levels of lactate in blood	Always
Increased lactate in body	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	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 NSUN3 and how often each is seen. Find out more at hpo.jax.org.

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