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Traits
Traits linked to UBE4A
ubiquitination factor E4A
The Human Phenotype Ontology links 10 traits to UBE4A, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed speech and language development | Always |
| Intellectual disability, severe | Always |
| Inability to walk | Very often (80–99%) |
| Aggressive behavior | Often (30–79%) |
| Attention deficit | Often (30–79%) |
| Autism spectrum disorder | Often (30–79%) |
| Grand mal seizures | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Low muscle tone | Very often (80–99%) |
| Lower limb spasticity | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Short stature | 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 UBE4A and how often each is seen. Find out more at hpo.jax.org.
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