Monarch Ortholog Phenotypes
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Human (49 sources):
Abnormal facial shape,
Absent septum pellucidum,
Absent speech,
Autistic behavior,
Cerebellar atrophy,
Cerebral atrophy,
Cerebral visual impairment,
Chorea,
Choreoathetosis,
Cortical dysplasia,
Delayed speech and language development,
Depression,
Developmental regression,
Dyskinesia,
Dystonia,
EEG with focal epileptiform discharges,
EEG with generalized epileptiform discharges,
Epileptic encephalopathy,
Epileptic spasm,
Focal-onset seizure,
Gait disturbance,
Generalized hypotonia,
Generalized-onset seizure,
Global developmental delay,
Hyperactivity,
Hyperkinetic movements,
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,
Myoclonus,
Nasogastric tube feeding,
Nystagmus,
Polymicrogyria,
Poor speech,
Rigidity,
Seizure,
Short attention span,
Sleep disturbance,
Spasticity
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Mouse (6 sources):
abnormal locomotor behavior,
absent vibrissae,
decreased grip strength,
limb grasping,
preweaning lethality, incomplete penetrance,
trunk curl
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View all ortholog results at Monarch
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