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

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Functional motor deficit	Foarte des (80–99%)
Abnormal muscle tone	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Low muscle tone	Des (30–79%)
Poor head control	Des (30–79%)
Hunched back	Uneori (5–29%)
Low muscle tone, in neonatal onset	Uneori (5–29%)
Rigidity	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Development of small head that was not present at birth	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Failure of development of between one and six teeth	Uneori (5–29%)
High forehead	Uneori (5–29%)
Big calvaria	Neînregistrat
Drooling	Neînregistrat

Abnormality of the eye

Trait	Cât de frecvent apare
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Abnormal involuntary eye movements	Rar (1–4%)
Abnormality of vision	Rar (1–4%)
Optic atrophy	Rar (1–4%)
Retina degeneration	Rar (1–4%)
Total ophthalmoplegia	Neînregistrat

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Rapid breathing	Întotdeauna
Abnormal pattern of respiration	Foarte des (80–99%)
Episodic tachypnea	Des (30–79%)
Sudden episodic apnea	Des (30–79%)
Apnea	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Short foot	Întotdeauna
Small hand	Des (30–79%)
Increased muscle tone of arm or leg	Rar (1–4%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Foarte des (80–99%)
Functional abnormality of the gastrointestinal tract	Des (30–79%)
Acid reflux	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay	Uneori (5–29%)
Short stature	Uneori (5–29%)

Abnormality of prenatal development or birth

Trait	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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