Monarch Ortholog Phenotypes
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Human (57 sources):
Abnormality of movement,
Acidosis,
Aminoaciduria,
Anemia,
Apnea,
Ataxia,
Cytochrome C oxidase-negative muscle fibers,
Decreased activity of mitochondrial respiratory chain,
Decreased activity of the pyruvate dehydrogenase complex,
Decreased liver function,
Dysarthria,
Dystonia,
Emotional lability,
Exercise intolerance,
Exertional dyspnea,
Failure to thrive,
Focal T2 hyperintense basal ganglia lesion,
Generalized hypotonia,
Global developmental delay,
Glycosuria,
Hearing impairment,
Hepatomegaly,
High palate,
Hyperphosphaturia,
Hyperreflexia,
Hypertrichosis,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased circulating lactate concentration,
Increased CSF lactate,
Increased hepatocellular lipid droplets,
Increased intramyocellular lipid droplets,
Intellectual disability,
Intellectual disability, severe,
Lactic acidosis,
Leukodystrophy,
Leukoencephalopathy,
Motor delay,
Nystagmus,
Ophthalmoplegia,
Optic atrophy,
Peripheral neuropathy,
Pigmentary retinopathy,
Progressive cerebellar ataxia,
Progressive spastic paraplegia,
Proteinuria,
Ptosis,
Renal Fanconi syndrome,
Renal tubular dysfunction,
Respiratory distress,
Respiratory insufficiency due to muscle weakness,
Seizure,
Sensorineural hearing impairment,
Spasticity,
Strabismus,
Ventricular septal defect,
Weakness of facial musculature
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Mouse (16 sources):
abnormal heart weight,
abnormal respiratory electron transport chain,
cardiac hypertrophy,
decreased retina inner nuclear layer thickness,
grizzled coat color,
increased astrocyte number,
increased astrocyte size,
increased grip strength,
increased heart weight,
premature aging,
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View all ortholog results at Monarch
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