gabrb2 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (8)

Interactants (6)

XB-GENEPAGE-22068477

Gene Symbol: gabrb2 Gene Name: gamma-aminobutyric acid type A receptor beta2 subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (56 sources): Abnormal corpus callosum morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of vision, Absent speech, Ataxia, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Brain atrophy, Cerebral atrophy, Cerebral visual impairment, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, Dystonia, EEG abnormality, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High forehead, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impulsivity, Inability to walk, Intellectual disability, Involuntary movements, Lethargy, Limb hypertonia, Mental deterioration, Microcephaly, Myoclonus, Nystagmus, Optic atrophy, Poor head control, Postnatal microcephaly, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Spasticity, Status epilepticus, Tremor, Unsteady gait [+]
Mouse (14 sources): abnormal GABA-mediated receptor currents, abnormal auditory brainstem response waveform shape, abnormal behavioral response to xenobiotic, abnormal cochlea morphology, abnormal cochlear OHC efferent innervation pattern, abnormal distortion product otoacoustic emission, abnormal spiral limbus morphology, cochlear ganglion degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, homeostasis/metabolism phenotype, increased or absent threshold for auditory brainstem response, sensorineural hearing loss, type IV spiral ligament fibrocyte degeneration [+]
View all ortholog results at Monarch