Traits

Traits linked to UBE3C

ubiquitin protein ligase E3C

The Human Phenotype Ontology links 23 traits to UBE3C, 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
Aggressive behavior	Always
Autism spectrum disorder	Always
Global developmental delay	Always
Intellectual disability, severe	Always
Motor delay	Always
Ataxia	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Inability to speak	Often (30–79%)
Limb dystonia	Often (30–79%)
More active than typical	Often (30–79%)
Small cerebellum	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Tremor	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Intermittent diarrhea	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Often (30–79%)
Low muscle tone	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Failure of development of between one and six teeth	Always

Abnormality of limbs

Trait	How often it is seen
Bilateral coxa valga	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	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 UBE3C and how often each is seen. Find out more at hpo.jax.org.

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