Monarch Ortholog Phenotypes
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Human (46 sources):
Abnormal facial shape,
Absent septum pellucidum,
Absent speech,
Autistic behavior,
Axial hypotonia,
Cerebral atrophy,
Cerebral visual impairment,
Chorea,
Cortical dysplasia,
Delayed ability to walk,
Delayed speech and language development,
Depression,
Dyskinesia,
Dystonia,
EEG with focal epileptiform discharges,
EEG with generalized epileptiform discharges,
Epileptic spasm,
Febrile seizure (within the age range of 3 months to 6 years),
Focal-onset seizure,
Generalized hypotonia,
Generalized myoclonic seizure,
Generalized-onset seizure,
Global developmental delay,
Hyperactivity,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypotonia,
Hypsarrhythmia,
Impulsivity,
Inability to walk,
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,
Polymicrogyria,
Poor speech,
Seizure,
Short attention span,
Sleep disturbance,
Spasticity
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Mouse (21 sources):
abnormal cerebral cortex morphology,
abnormal lipid homeostasis,
abnormal neurite morphology,
abnormal neuron differentiation,
abnormal pilomotor reflex,
cellular phenotype,
decreased body size,
decreased fatty acids level,
domed cranium,
forebrain hypoplasia,
growth/size/body region phenotype,
increased fatty acids level,
increased neuron apoptosis,
lethality, incomplete penetrance,
nervous system phenotype,
perinatal lethality, incomplete penetrance,
postnatal lethality, incomplete penetrance,
premature death,
preweaning lethality, incomplete penetrance,
small hippocampus,
small seminal vesicle
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View all ortholog results at Monarch
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