| Monarch Ortholog Phenotypes
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Human (49 sources):
Abnormal brainstem morphology,
Abnormal periventricular white matter morphology,
Abnormality of the dentition,
Aggressive behavior,
Athetosis,
Atonic seizure,
Atypical absence seizure,
Autistic behavior,
Behavioral abnormality,
Bilateral tonic-clonic seizure,
Cleft palate,
Depressed nasal bridge,
Downslanted palpebral fissures,
Dyskinesia,
Dysphagia,
EEG abnormality,
EEG with focal sharp slow waves,
Encephalopathy,
Enlarged cisterna magna,
Epileptic encephalopathy,
Falls,
Focal-onset seizure,
Frontotemporal cerebral atrophy,
Gait disturbance,
Gastroesophageal reflux,
Generalized myoclonic seizure,
Generalized non-motor (absence) seizure,
Generalized tonic seizure,
Gingival overgrowth,
Global developmental delay,
High forehead,
Hyperactivity,
Hypoplasia of the corpus callosum,
Hypsarrhythmia,
Intellectual disability,
Intellectual disability, progressive,
Intellectual disability, severe,
Low-set ears,
Macrocephaly,
Mental deterioration,
Myoclonus,
Personality disorder,
Poor eye contact,
Posteriorly rotated ears,
Psychomotor retardation,
Ptosis,
Recurrent respiratory infections,
Seizure,
Tented upper lip vermilion
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Mouse (12 sources):
abnormal cerebral cortex morphology,
abnormal embryonic/fetal subventricular zone morphology,
abnormal neocortex morphology,
abnormal neural tube marginal layer morphology,
abnormal neural tube ventricular layer morphology,
abnormal neuronal precursor proliferation,
abnormal spinal cord interneuron morphology,
abnormal ventral spinal root morphology,
decreased cell proliferation,
increased brain size,
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View all ortholog results at Monarch
|
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.