| Monarch Ortholog Phenotypes
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Human (55 sources):
Abnormal cerebellum morphology,
Abnormal cerebral white matter morphology,
Abnormality of extrapyramidal motor function,
Abnormality of eye movement,
Ataxia,
Atypical behavior,
Babinski sign,
Bowel incontinence,
Clonus,
Cognitive impairment,
Deep cerebral white matter hyperintensities,
Dementia,
Demyelinating peripheral neuropathy,
Diabetes mellitus,
Distal amyotrophy,
Dysarthria,
Frontotemporal dementia,
Functional abnormality of the bladder,
Gait disturbance,
Hand tremor,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Impaired vibratory sensation,
Intellectual disability,
Leg muscle stiffness,
Lower limb hyperreflexia,
Lower limb muscle weakness,
Lower limb spasticity,
Macular degeneration,
Muscle weakness,
Nystagmus,
obsolete Mood swings,
Paraplegia,
Peripheral axonal neuropathy,
Pes cavus,
Phenotypic abnormality,
Pigmentary retinopathy,
Pseudobulbar paralysis,
Psychosis,
Reduced visual acuity,
Retinal degeneration,
Retinal flecks,
Saccadic smooth pursuit,
Seizure,
Spastic gait,
Spasticity,
Spastic paraplegia,
Specific learning disability,
Upper limb muscle weakness,
Upper limb spasticity,
Urinary bladder sphincter dysfunction,
Urinary incontinence,
Urinary urgency,
Visual impairment,
Yellow/white lesions of the retina
[+]
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Mouse (9 sources):
abnormal lysosome morphology,
abnormal motor learning,
abnormal sleep behavior,
behavior/neurological phenotype,
decreased brain weight,
decreased mean corpuscular hemoglobin,
delayed axon extension,
enlarged urinary bladder,
Purkinje cell degeneration
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View all ortholog results at Monarch
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.