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

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Functional motor deficit	Meget ofte (80–99 %)
Abnormal muscle tone	Ofte (30–79 %)
Generalized decreased muscle tone	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Poor head control	Ofte (30–79 %)
Hunched back	Nogle gange (5–29 %)
Low muscle tone, in neonatal onset	Nogle gange (5–29 %)
Rigidity	Nogle gange (5–29 %)
Scoliosis	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Development of small head that was not present at birth	Ofte (30–79 %)
Abnormally small head	Nogle gange (5–29 %)
Downward slanting of the opening between the eyelids	Nogle gange (5–29 %)
Failure of development of between one and six teeth	Nogle gange (5–29 %)
High forehead	Nogle gange (5–29 %)
Big calvaria	Ikke registreret
Drooling	Ikke registreret

Abnormality of the eye

Trait	Hvor ofte det ses
Drooping upper eyelid	Nogle gange (5–29 %)
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)
Abnormal involuntary eye movements	Sjældent (1–4%)
Abnormality of vision	Sjældent (1–4%)
Optic atrophy	Sjældent (1–4%)
Retina degeneration	Sjældent (1–4%)
Total ophthalmoplegia	Ikke registreret

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Rapid breathing	Altid
Abnormal pattern of respiration	Meget ofte (80–99 %)
Episodic tachypnea	Ofte (30–79 %)
Sudden episodic apnea	Ofte (30–79 %)
Apnea	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Short foot	Altid
Small hand	Ofte (30–79 %)
Increased muscle tone of arm or leg	Sjældent (1–4%)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties	Meget ofte (80–99 %)
Functional abnormality of the gastrointestinal tract	Ofte (30–79 %)
Acid reflux	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight	Ofte (30–79 %)
Growth delay	Nogle gange (5–29 %)
Short stature	Nogle gange (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Less than 10 fetal movements in 12 hours	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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