Traits

Traits linked to UBE3A

ubiquitin protein ligase E3A

The Human Phenotype Ontology links 96 traits to UBE3A, 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
Absent speech development	Always
Ataxia	Always
Delayed ability to walk	Always
EEG abnormality	Always
Global developmental delay	Always
Happy demeanor	Always
Intellectual disability, severe	Always
Motor delay	Always
Attention deficit	Very often (80–99%)
Clumsiness	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
EEG with abnormally slow frequencies	Very often (80–99%)
Epilepsy	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Neurodevelopmental delay	Very often (80–99%)
Obsessive compulsive behavior	Very often (80–99%)
Sleep-wake cycle disturbance	Very often (80–99%)
Wide based walk	Very often (80–99%)
Abnormal eating behavior	Often (30–79%)
Abnormal speech pattern	Often (30–79%)
Apraxia	Often (30–79%)
Autism	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Delayed myelination	Often (30–79%)
Inappropriate laughter	Often (30–79%)
Increased appetite	Often (30–79%)
Intellectual disability, mild	Often (30–79%)
More active than typical	Often (30–79%)
Overactive lower leg reflex	Often (30–79%)
Poor speech	Often (30–79%)
Short attention span	Often (30–79%)
Tongue thrusting	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormality of balance	Sometimes (5–29%)
Abnormality of movement	Sometimes (5–29%)
Atypical absence seizure	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Bilateral tonic-clonic seizure with generalized onset	Sometimes (5–29%)
Brain imaging abnormality	Sometimes (5–29%)
EEG with focal epileptiform discharges	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Hyperorality	Sometimes (5–29%)
Jerking	Sometimes (5–29%)
Recurrent hand flapping	Sometimes (5–29%)
Shortened sleep phase	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Not recorded
Increased reflexes	Not recorded
Limb tremor	Not recorded
Paroxysmal bursts of laughter	Not recorded
Progressive gait ataxia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always
Head stopped growing	Very often (80–99%)
Abnormal facial shape	Often (30–79%)
Drooling	Often (30–79%)
Flat back of skull	Often (30–79%)
Mild microcephaly	Often (30–79%)
Protruding tongue	Often (30–79%)
Wide mouth	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Big calvaria	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Expressionless face	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Abnormally large tongue	Not recorded
Broad head shape	Not recorded
Decreased size of maxilla	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Light eye color	Often (30–79%)
Blue eyes	Not recorded
Close sighted	Not recorded
Deeply set eye	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded
Outward facing eye ball	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Decreased muscle tone in infant	Often (30–79%)
Functional motor deficit	Often (30–79%)
Scoliosis	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Poor suck	Often (30–79%)
Poor swallowing	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Often (30–79%)
Finger syndactyly	Sometimes (5–29%)
Limitation of movement at ankles	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Loss of hair color	Often (30–79%)
Patchy lightened skin	Often (30–79%)
Fair hair	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Heat intolerance	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 UBE3A and how often each is seen. Find out more at hpo.jax.org.

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