gabra5 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (49)

Interactants (13)

XB-GENEPAGE-980291

Gene Symbol: gabra5 Gene Name: gamma-aminobutyric acid (GABA) A receptor, alpha 5

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (48 sources): Abnormal corpus callosum morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of vision, Ataxia, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Brain atrophy, Cerebral atrophy, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, EEG with multifocal slow activity, Encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High forehead, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impulsivity, Intellectual disability, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Myoclonus, Nystagmus, Optic atrophy, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Spasticity, Status epilepticus, Tremor, Unsteady gait [+]
Mouse (20 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 contextual conditioning behavior, abnormal distortion product otoacoustic emission, abnormal hippocampus CA1 region morphology, abnormal inhibitory postsynaptic currents, abnormal long term potentiation, abnormal spatial learning, cochlear ganglion degeneration, cochlear inner hair cell degeneration, cochlear outer hair cell degeneration, decreased fluid intake, decreased prepulse inhibition, enhanced cued conditioning behavior, increased or absent threshold for auditory brainstem response, sensorineural hearing loss, type IV spiral ligament fibrocyte degeneration [+]
View all ortholog results at Monarch