Traits

Traits linked to STEEP1

STING1 ER exit protein 1

The Human Phenotype Ontology links 20 traits to STEEP1, 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
Long face	Very often (80–99%)
Big lower jaw	Often (30–79%)
Broad forehead	Often (30–79%)
Narrow face	Often (30–79%)
Smooth philtrum	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Broad chin	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Autism spectrum disorder	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Often (30–79%)
Prominent crus of helix	Often (30–79%)
Abnormality of superior crus of antihelix	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Obesity	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 STEEP1 and how often each is seen. Find out more at hpo.jax.org.

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