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	Kaip dažnai pasireiškia
EEG with focal sharp slow waves	Labai dažnai (80–99%)
EEG with spike-wave complexes (2.5-3.5 Hz)	Labai dažnai (80–99%)
Encephalopathy	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Typical absence seizure	Labai dažnai (80–99%)
Abnormal shape of brainstem	Dažnai (30–79%)
Aggressive behavior	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Atypical absence seizure	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Falls	Dažnai (30–79%)
Generalized tonic seizure	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Impulsivity	Dažnai (30–79%)
Infantile spasms	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Jerking	Dažnai (30–79%)
Mental deterioration	Dažnai (30–79%)
More active than typical	Dažnai (30–79%)
Myoclonic seizure	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Personality disorder	Dažnai (30–79%)
Sudden loss of muscle tone	Dažnai (30–79%)
Abnormal social behavior	Kartais (5–29%)
Anxiety	Kartais (5–29%)
Depression	Kartais (5–29%)
Difficulty sleeping	Kartais (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Kartais (5–29%)
Generalized myoclonic seizure	Kartais (5–29%)
Hypsarrhythmia	Kartais (5–29%)
Impaired visuospatial constructive cognition	Kartais (5–29%)
Lack of feeling, emotion, interest	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Low self-esteem	Kartais (5–29%)
Myoclonic absence seizure	Kartais (5–29%)
Psychosis	Kartais (5–29%)
Punding	Kartais (5–29%)
Reading disability	Kartais (5–29%)
Seizure affecting one half of brain	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)
Head jerking	Retai (1–4 %)
Limb myoclonus	Retai (1–4 %)
Ataxia	Neužfiksuota
Brief seizures with staring spells	Neužfiksuota
Disorder of involuntary muscle movements	Neužfiksuota
Epileptic encephalopathy	Neužfiksuota

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Dizziness	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Uncontrolled eye movements	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Loss of bladder control	Retai (1–4 %)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Paleness	Dažnai (30–79%)

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Generalized decreased muscle tone	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Rapid breathing	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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