| Monarch Ortholog Phenotypes
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Human (45 sources):
Ataxia,
Axial hypotonia,
Blepharospasm,
Cerebellar atrophy,
Cerebral hypomyelination,
Choreoathetosis,
Delayed speech and language development,
Dementia,
Dysarthria,
Dysdiadochokinesis,
Dysphagia,
Dysphonia,
Dystonia,
Eunuchoid habitus,
Gait ataxia,
Gait disturbance,
Generalized dystonia,
Hearing impairment,
Intellectual disability,
Involuntary movements,
Kyphoscoliosis,
Laryngeal dystonia,
Leukodystrophy,
Limb dystonia,
Microcephaly,
Motor delay,
Movement abnormality of the tongue,
Narrow face,
Nystagmus,
Open mouth,
Optic atrophy,
Poor speech,
Respiratory distress,
Rigidity,
Seizure,
Short stature,
Slender build,
Spasticity,
Specific learning disability,
Sunken cheeks,
Torsion dystonia,
Torticollis,
Tremor,
Upper limb postural tremor,
Visual impairment
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Mouse (11 sources):
abnormal axon morphology,
abnormal brain development,
abnormal cerebellar granule layer morphology,
abnormal motor capabilities/coordination/movement,
behavior/neurological phenotype,
decreased grip strength,
decreased myelin sheath thickness,
decreased oligodendrocyte number,
impaired righting response,
neuron degeneration,
[+]
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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.