| Monarch Ortholog Phenotypes
|
Human (44 sources):
Abnormal cerebral white matter morphology,
Absent speech,
Areflexia,
Autistic behavior,
Cerebellar hypoplasia,
Cerebral atrophy,
Chorea,
Decreased activity of mitochondrial complex I,
Decreased activity of mitochondrial complex III,
Decreased activity of mitochondrial complex IV,
Developmental regression,
Diffuse cerebellar atrophy,
Diffuse cerebral atrophy,
Dysphagia,
Dystonia,
EEG with periodic lateralized epileptiform discharges,
Epileptic encephalopathy,
Failure to thrive,
Feeding difficulties,
Generalized myoclonic seizure,
Global developmental delay,
Hearing impairment,
Hypoplasia of the corpus callosum,
Hypoplastic hippocampus,
Increased circulating lactate concentration,
Intellectual disability,
Involuntary movements,
Microcephaly,
Microvesicular hepatic steatosis,
Multifocal epileptiform discharges,
Multifocal seizures,
Myoclonus,
Nasogastric tube feeding,
Nonimmune hydrops fetalis,
Opisthotonus,
Pain,
Progressive visual loss,
Ragged-red muscle fibers,
Secondary microcephaly,
Severe muscular hypotonia,
Status epilepticus,
Tetraparesis,
Upper limb postural tremor,
Visual impairment
[+]
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|
Mouse (6 sources):
abnormal mitochondrial physiology,
head bobbing,
hearing/vestibular/ear phenotype,
induced hyperactivity,
nervous system phenotype,
prenatal lethality
|
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.