Traits

Traits linked to SET

SET nuclear proto-oncogene

The Human Phenotype Ontology links 39 traits to SET, 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
Asymmetry of the posterior head	Sometimes (5–29%)
Broad nasal tip	Sometimes (5–29%)
Decreased facial muscle tone	Sometimes (5–29%)
Dental crowding	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)
Short chin	Sometimes (5–29%)
Submucous cleft hard palate	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)
Abnormally small head	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Brisk reflexes	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Falls	Sometimes (5–29%)
Incoordination	Sometimes (5–29%)
Delayed ability to walk	Not recorded
Intellectual disability	Not recorded
Poor speech	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Low muscle tone in trunk	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Sometimes (5–29%)
Large ears	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Cross-eyed	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Few cafe-au-lait spots	Sometimes (5–29%)
Small fifth toenail	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the breast

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

Abnormality of the voice

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

Growth abnormality

Trait	How often it is seen
Short stature	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 SET and how often each is seen. Find out more at hpo.jax.org.

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