| Monarch Ortholog Phenotypes
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Human (42 sources):
Abnormal facial shape,
Absent septum pellucidum,
Autistic behavior,
Cerebral atrophy,
Cerebral visual impairment,
Chorea,
Cortical dysplasia,
Delayed speech and language development,
Depression,
Dyskinesia,
Dystonia,
EEG with focal epileptiform discharges,
EEG with generalized epileptiform discharges,
Epileptic spasm,
Focal-onset seizure,
Generalized hypotonia,
Generalized-onset seizure,
Global developmental delay,
Hyperactivity,
Hypoplasia of the corpus callosum,
Hypotonia,
Hypsarrhythmia,
Impulsivity,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, moderate,
Intellectual disability, severe,
Involuntary movements,
Large basal ganglia,
Microcephaly,
Motor delay,
Motor stereotypy,
Multifocal epileptiform discharges,
Myoclonus,
Nasogastric tube feeding,
Polymicrogyria,
Poor speech,
Seizure,
Short attention span,
Sleep disturbance,
Spasticity,
Tremor
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Mouse (12 sources):
abnormal CNS synaptic transmission,
abnormal contextual conditioning behavior,
abnormal cued conditioning behavior,
abnormal excitatory postsynaptic potential,
abnormal glutamate-mediated receptor currents,
abnormal long term potentiation,
abnormal single cell response,
decreased fear-related response,
decreased paired-pulse facilitation,
decreased susceptibility to pharmacologically induced seizures,
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.