Özellikler

GABRG2 ile ilişkili özellikler

gamma-aminobutyric acid type A receptor subunit gamma2

Human Phenotype Ontology, GABRG2 ile ilişkili 138 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

Abnormality of the nervous system

Özellik	Ne sıklıkla görüldüğü
Absent speech development	Her zaman
Epileptic encephalopathy	Her zaman
Severe global developmental delay	Her zaman
EEG with centrotemporal focal spike waves	Çok sık (%80–99)
EEG with spike-wave complexes (2.5-3.5 Hz)	Çok sık (%80–99)
Encephalopathy	Çok sık (%80–99)
Febrile seizure (within the age range of 3 months to 6 years)	Çok sık (%80–99)
Generalized-onset seizure	Çok sık (%80–99)
Loss of developmental milestones	Çok sık (%80–99)
Progressive gait ataxia	Çok sık (%80–99)
Seizure affecting one half of brain	Çok sık (%80–99)
Typical absence seizure	Çok sık (%80–99)
Abnormality of coordination	Sık (%30–79)
Anxiety	Sık (%30–79)
Attention deficit	Sık (%30–79)
Atypical absence seizure	Sık (%30–79)
Autism spectrum disorder	Sık (%30–79)
Bilateral tonic-clonic seizure with focal onset	Sık (%30–79)
Brief seizures with staring spells	Sık (%30–79)
Cognitive impairment	Sık (%30–79)
Complex febrile seizure	Sık (%30–79)
Decreased reflex response	Sık (%30–79)
Delayed speech and language development	Sık (%30–79)
EEG with multifocal slow activity	Sık (%30–79)
Epilepsia partialis continua	Sık (%30–79)
Epilepsy	Sık (%30–79)
Focal aware seizure	Sık (%30–79)
Focal hemiclonic seizure	Sık (%30–79)
Focal hemifacial clonic seizure	Sık (%30–79)
Focal impaired awareness seizure	Sık (%30–79)
Generalized clonic seizure	Sık (%30–79)
Generalized myoclonic seizure	Sık (%30–79)
Global developmental delay	Sık (%30–79)
Grand mal seizures	Sık (%30–79)
Intellectual disability	Sık (%30–79)
Interictal epileptiform activity	Sık (%30–79)
Jerking	Sık (%30–79)
Multifocal epileptiform discharges	Sık (%30–79)
Obsessive-compulsive trait	Sık (%30–79)
Parkinsonism	Sık (%30–79)
Pauses in breathing while sleeping	Sık (%30–79)
Photosensitive myoclonic seizure	Sık (%30–79)
Photosensitive tonic-clonic seizure	Sık (%30–79)
Slow movements	Sık (%30–79)
Speech articulation difficulties	Sık (%30–79)
Abnormal corpus callosum morphology	Bazen (%5–29)
Abnormal gait	Bazen (%5–29)
Abnormal myelination	Bazen (%5–29)
Abnormal social behavior	Bazen (%5–29)
Action tremor	Bazen (%5–29)
Ataxia	Bazen (%5–29)
Atypical absence status epilepticus	Bazen (%5–29)
Autism	Bazen (%5–29)
Behavioral abnormality	Bazen (%5–29)
Brain degeneration	Bazen (%5–29)
Can't control feelings	Bazen (%5–29)
Choreoathetosis	Bazen (%5–29)
Cortical dysplasia	Bazen (%5–29)
Degeneration of cerebrum	Bazen (%5–29)
Delayed CNS myelination	Bazen (%5–29)
Depression	Bazen (%5–29)
Diminished deep tendon reflex	Bazen (%5–29)
Disorder of involuntary muscle movements	Bazen (%5–29)
Dysesthesia	Bazen (%5–29)
Dysgenesis of the hippocampus	Bazen (%5–29)
EEG with focal epileptiform discharges	Bazen (%5–29)
EEG with generalized epileptiform discharges	Bazen (%5–29)
EEG with spike-wave complexes	Bazen (%5–29)
Generalized brain degeneration	Bazen (%5–29)
Generalized cerebral degeneration/underdevelopment	Bazen (%5–29)
Hypsarrhythmia	Bazen (%5–29)
Impaired visuospatial constructive cognition	Bazen (%5–29)
Impulsivity	Bazen (%5–29)
Incoordination	Bazen (%5–29)
Infantile spasms	Bazen (%5–29)
Intellectual disability, borderline	Bazen (%5–29)
Involuntary movements	Bazen (%5–29)
Low self-esteem	Bazen (%5–29)
Mental deterioration	Bazen (%5–29)
Migraine	Bazen (%5–29)
Myoclonic absence seizure	Bazen (%5–29)
Myoclonic seizure	Bazen (%5–29)
Pins and needles feeling	Bazen (%5–29)
Poor fine motor coordination	Bazen (%5–29)
Punding	Bazen (%5–29)
Reading disability	Bazen (%5–29)
Reduced cerebral white matter volume	Bazen (%5–29)
Short attention span	Bazen (%5–29)
Specific learning disability	Bazen (%5–29)
Status epilepticus without prominent motor symptoms	Bazen (%5–29)
Sudden loss of muscle tone	Bazen (%5–29)
Tonic seizure	Bazen (%5–29)
Tremor	Bazen (%5–29)
Unsteady walk	Bazen (%5–29)
EEG with irregular generalized spike and wave complexes	Seyrek (%1–4)
Generalized tonic seizure	Seyrek (%1–4)
Head jerking	Seyrek (%1–4)
Limb myoclonus	Seyrek (%1–4)
Repeated seizures without recovery between them	Seyrek (%1–4)
EEG with polyspike wave complexes	Kaydedilmedi
EEG with spike-wave complexes (>3.5 Hz)	Kaydedilmedi

Abnormality of head or neck

Özellik	Ne sıklıkla görüldüğü
Drooling	Sık (%30–79)
Facial tics	Sık (%30–79)
Limited neck range of motion	Sık (%30–79)
Abnormally small head	Bazen (%5–29)
Downward slanting of the opening between the eyelids	Bazen (%5–29)
Failure of development of between one and six teeth	Bazen (%5–29)
High forehead	Bazen (%5–29)

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Involuntary, rapid, rhythmic eye movements	Sık (%30–79)
Drooping upper eyelid	Bazen (%5–29)
Uncontrolled eye movements	Bazen (%5–29)
Abnormal involuntary eye movements	Seyrek (%1–4)
Abnormality of vision	Seyrek (%1–4)
Optic atrophy	Seyrek (%1–4)
Retina degeneration	Seyrek (%1–4)

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Cogwheel rigidity	Sık (%30–79)
Generalized decreased muscle tone	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Rigidity	Sık (%30–79)
Decreased muscle tone in infant	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Poor head control	Bazen (%5–29)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Dropped arches	Bazen (%5–29)
Limited knee straightening	Bazen (%5–29)
Pes valgus	Bazen (%5–29)
Tibial torsion	Bazen (%5–29)
Increased muscle tone of arm or leg	Seyrek (%1–4)
Talipes valgus	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Acid reflux	Bazen (%5–29)
Feeding difficulties	Bazen (%5–29)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Paleness	Sık (%30–79)
Cyanotic episode	Bazen (%5–29)

Abnormality of the respiratory system

Özellik	Ne sıklıkla görüldüğü
Laryngospasm	Sık (%30–79)
Rapid breathing	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Short stature	Bazen (%5–29)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Less than 10 fetal movements in 12 hours	Bazen (%5–29)

Abnormality of the genitourinary system

Özellik	Ne sıklıkla görüldüğü
Loss of bladder control	Seyrek (%1–4)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: GABRG2 ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

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