Traits

Traits linked to NSUN2

NOP2/Sun RNA methyltransferase 2

The Human Phenotype Ontology links 49 traits to NSUN2, 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	Very often (80–99%)
Corners of eye widely separated	Sometimes (5–29%)
Narrow opening between the eyelids	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Full upper lip	Not recorded
Long face	Not recorded
Monobrow	Not recorded
Narrow face	Not recorded
Prominent nose	Not recorded
Short chin	Not recorded
Short philtrum	Not recorded
Smooth philtrum	Not recorded
Thick eyebrow	Not recorded
Underdeveloped tissue around nostril	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent speech development	Always
Autism	Always
Global developmental delay	Always
Inability to coordinate movements when walking	Always
Intellectual disability	Always
IQ between 34 and 49	Always
Wide based walk	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Delayed speech and language development	Not recorded
Difficulty articulating speech	Not recorded
Increased reflexes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spastic walk	Always
Low muscle tone	Very often (80–99%)
Spasticity and rigidity of muscles	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Low muscle tone in trunk	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Horizontal nystagmus	Often (30–79%)
Wide-set eyes	Sometimes (5–29%)
Abnormally close eyes	Not recorded

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Often (30–79%)
Shortening of the achilles tendon	Often (30–79%)
Webbed 4th-5th toes	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Short stature	Often (30–79%)
Growth delay as children	Not recorded
Small for gestational age	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased circulating lactate dehydrogenase concentration	Always
Elevated blood creatine phosphokinase	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Inverted nipples	Always

Abnormality of the digestive system

Trait	How often it is seen
Tube feeding	Always

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Scrotum surrounds penis	Always

Abnormality of the immune system

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

Abnormality of the integument

Trait	How often it is seen
Sparse hair	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 NSUN2 and how often each is seen. Find out more at hpo.jax.org.

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