| Monarch Ortholog Phenotypes
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Human (43 sources):
Abnormal facial shape,
Absent septum pellucidum,
Autistic behavior,
Babinski sign,
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,
Hyperactive deep tendon reflexes,
Hyperactivity,
Hypoplasia of the corpus callosum,
Hypotonia,
Hypsarrhythmia,
Impulsivity,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, moderate,
Intellectual disability, severe,
Large basal ganglia,
Microcephaly,
Motor delay,
Motor stereotypy,
Multifocal epileptiform discharges,
Nasogastric tube feeding,
Nystagmus,
Polymicrogyria,
Poor speech,
Seizure,
Short attention span,
Sleep disturbance,
Spasticity,
Strabismus
[+]
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Mouse (9 sources):
abnormal dendritic spine morphology,
abnormal neuron physiology,
abnormal social investigation,
abnormal thymus morphology,
decreased circulating bilirubin level,
decreased locomotor activity,
enlarged thymus,
increased circulating lactate dehydrogenase level,
increased thigmotaxis
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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.