Traits

Traits linked to SETD1B

SET domain containing 1B, histone lysine methyltransferase

The Human Phenotype Ontology links 19 traits to SETD1B, 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
Autism spectrum disorder	Always
Global developmental delay	Always
Increased theta frequency activity in EEG	Always
Myoclonic seizure	Always
Anxiety	Often (30–79%)
Delayed speech and language development	Often (30–79%)
EEG with polyspike wave complexes	Often (30–79%)
Grand mal seizures	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
IQ less than 20	Often (30–79%)
Myoclonic absence seizure	Often (30–79%)
EEG with spike-wave complexes (2.5-3.5 Hz)	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Downward slanting of the opening between the eyelids	Often (30–79%)
Flat back of skull	Often (30–79%)
Full cheeks	Often (30–79%)
Full lower lip	Often (30–79%)
Square face	Often (30–79%)
Thick eyebrow	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Tapered finger	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 SETD1B and how often each is seen. Find out more at hpo.jax.org.

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