Traits

Traits linked to GABBR2

gamma-aminobutyric acid type B receptor subunit 2

The Human Phenotype Ontology links 112 traits to GABBR2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Absent speech development	Visada
Autism spectrum disorder	Visada
Developmental stagnation	Visada
Epileptic encephalopathy	Visada
Inability to walk	Visada
Inappropriate crying	Visada
Infantile spasms	Visada
Intellectual disability	Visada
Intellectual disability, severe	Visada
Loss of developmental milestones	Visada
Recurrent hand flapping	Visada
Sleep-wake cycle disturbance	Visada
Teeth grinding	Visada
Abnormal gait	Labai dažnai (80–99%)
Abnormality of movement	Labai dažnai (80–99%)
Agitation	Labai dažnai (80–99%)
Difficulty sleeping	Labai dažnai (80–99%)
EEG abnormality	Labai dažnai (80–99%)
Encephalopathy	Labai dažnai (80–99%)
Epilepsy	Labai dažnai (80–99%)
Involuntary movements	Labai dažnai (80–99%)
Loss of speech	Labai dažnai (80–99%)
Poor eye contact	Labai dažnai (80–99%)
Stereotypical hand wringing	Labai dažnai (80–99%)
Abnormality of coordination	Dažnai (30–79%)
Apraxia	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Dystonia	Dažnai (30–79%)
EEG with multifocal slow activity	Dažnai (30–79%)
Focal clonic seizure	Dažnai (30–79%)
Focal impaired awareness seizure	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Hand apraxia	Dažnai (30–79%)
Hypsarrhythmia	Dažnai (30–79%)
Inability to coordinate movements when walking	Dažnai (30–79%)
Inability to speak	Dažnai (30–79%)
Limb myoclonus	Dažnai (30–79%)
Loss of ability to walk	Dažnai (30–79%)
Multifocal epileptiform discharges	Dažnai (30–79%)
Neonatal seizure	Dažnai (30–79%)
Poor social interactions	Dažnai (30–79%)
Restrictive behavior	Dažnai (30–79%)
Self-injurious behavior	Dažnai (30–79%)
Severe global developmental delay	Dažnai (30–79%)
Tongue thrusting	Dažnai (30–79%)
Tonic seizure	Dažnai (30–79%)
Abnormal corpus callosum morphology	Kartais (5–29%)
Abnormal myelination	Kartais (5–29%)
Attention deficit	Kartais (5–29%)
Autism	Kartais (5–29%)
Behavioral abnormality	Kartais (5–29%)
Brain degeneration	Kartais (5–29%)
Degeneration of cerebrum	Kartais (5–29%)
Delayed motor skills	Kartais (5–29%)
Diminished deep tendon reflex	Kartais (5–29%)
Disorder of involuntary muscle movements	Kartais (5–29%)
Generalized myoclonic seizure	Kartais (5–29%)
Impaired pain sensation	Kartais (5–29%)
Impulsivity	Kartais (5–29%)
Inappropriate laughter	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Jerking	Kartais (5–29%)
Mental deterioration	Kartais (5–29%)
Panic attack	Kartais (5–29%)
Pill-rolling tremor	Kartais (5–29%)
Tremor	Kartais (5–29%)
Unsteady walk	Kartais (5–29%)
Repeated seizures without recovery between them	Retai (1–4 %)
Abnormal autonomic nervous system physiology	Neužfiksuota
Ventriculomegaly	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Functional motor deficit	Labai dažnai (80–99%)
Abnormal muscle tone	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Poor head control	Dažnai (30–79%)
Hunched back	Kartais (5–29%)
Low muscle tone, in neonatal onset	Kartais (5–29%)
Rigidity	Kartais (5–29%)
Scoliosis	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Development of small head that was not present at birth	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Failure of development of between one and six teeth	Kartais (5–29%)
High forehead	Kartais (5–29%)
Big calvaria	Neužfiksuota
Drooling	Neužfiksuota

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Drooping upper eyelid	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Abnormal involuntary eye movements	Retai (1–4 %)
Abnormality of vision	Retai (1–4 %)
Optic atrophy	Retai (1–4 %)
Retina degeneration	Retai (1–4 %)
Total ophthalmoplegia	Neužfiksuota

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Rapid breathing	Visada
Abnormal pattern of respiration	Labai dažnai (80–99%)
Episodic tachypnea	Dažnai (30–79%)
Sudden episodic apnea	Dažnai (30–79%)
Apnea	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Short foot	Visada
Small hand	Dažnai (30–79%)
Increased muscle tone of arm or leg	Retai (1–4 %)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Feeding difficulties	Labai dažnai (80–99%)
Functional abnormality of the gastrointestinal tract	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Growth delay	Kartais (5–29%)
Short stature	Kartais (5–29%)

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	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 GABBR2 and how often each is seen. Find out more at hpo.jax.org.

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