Traits

Traits linked to SETD2

SET domain containing 2, histone lysine methyltransferase

The Human Phenotype Ontology links 59 traits to SETD2, 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
Little lower jaw	Always
Highly arched eyebrow	Very often (80–99%)
Broad nasal tip	Often (30–79%)
Fullness around the eyes	Often (30–79%)
Low hanging columella	Often (30–79%)
Pointed chin	Often (30–79%)
Receding chin	Often (30–79%)
Short opening between the eyelids	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Big calvaria	Not recorded
Big lower jaw	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
High forehead	Not recorded
High frontal hairline	Not recorded
Long face	Not recorded
Long nose	Not recorded
Prominent forehead	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Small cerebellum	Always
Epilepsy	Often (30–79%)
Hypoplasia of the pons	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Aggressive behavior	Not recorded
Anxiety	Not recorded
Autism spectrum disorder	Not recorded
Chiari malformation	Not recorded
Delayed speech and language development	Not recorded
Fluid-filled cyst in spinal cord	Not recorded
Increased appetite	Not recorded
Shyness	Not recorded
Slurred speech	Not recorded
Ventriculomegaly	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Always
Optic nerve hypoplasia	Often (30–79%)
Retinal detachment	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Always
General overgrowth	Not recorded
Obesity	Not recorded
Short stature	Not recorded

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Very often (80–99%)
Sensorineural hearing impairment	Often (30–79%)
Recurrent middle ear infection	Not recorded

Abnormality of limbs

Trait	How often it is seen
Accelerated wrist bone maturation	Not recorded
Long foot	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Menstrual irregularity	Not recorded
Polycystic ovaries	Not recorded

Abnormality of the musculoskeletal system

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

Abnormality of the respiratory system

Trait	How often it is seen
Slow breathing	Often (30–79%)
Floppy windpipe	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Retinal telangiectasia	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Not recorded

Laboratory abnormality

Trait	How often it is seen
Low blood sodium levels	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 SETD2 and how often each is seen. Find out more at hpo.jax.org.

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