Traits

Traits linked to GABRB3

gamma-aminobutyric acid type A receptor subunit beta3

The Human Phenotype Ontology links 55 traits to GABRB3, 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
EEG with focal sharp slow waves	Very often (80–99%)
EEG with spike-wave complexes (2.5-3.5 Hz)	Very often (80–99%)
Encephalopathy	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Typical absence seizure	Very often (80–99%)
Abnormal shape of brainstem	Often (30–79%)
Aggressive behavior	Often (30–79%)
Attention deficit	Often (30–79%)
Atypical absence seizure	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Behavioral abnormality	Often (30–79%)
EEG abnormality	Often (30–79%)
Falls	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Grand mal seizures	Often (30–79%)
Impulsivity	Often (30–79%)
Infantile spasms	Often (30–79%)
Irritability	Often (30–79%)
Jerking	Often (30–79%)
Mental deterioration	Often (30–79%)
More active than typical	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Personality disorder	Often (30–79%)
Sudden loss of muscle tone	Often (30–79%)
Abnormal social behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Depression	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Generalized myoclonic seizure	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Impaired visuospatial constructive cognition	Sometimes (5–29%)
Lack of feeling, emotion, interest	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Low self-esteem	Sometimes (5–29%)
Myoclonic absence seizure	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Punding	Sometimes (5–29%)
Reading disability	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Head jerking	Rarely (1–4%)
Limb myoclonus	Rarely (1–4%)
Ataxia	Not recorded
Brief seizures with staring spells	Not recorded
Disorder of involuntary muscle movements	Not recorded
Epileptic encephalopathy	Not recorded

Abnormality of the ear

Trait	How often it is seen
Dizziness	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Uncontrolled eye movements	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Rapid breathing	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 GABRB3 and how often each is seen. Find out more at hpo.jax.org.

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