| Monarch Ortholog Phenotypes
|
Human (49 sources):
Abnormal pyramidal sign,
Aminoaciduria,
Anemia,
Ataxia,
Bilateral sensorineural hearing impairment,
Cytochrome C oxidase-negative muscle fibers,
Decreased liver function,
Delayed speech and language development,
Developmental regression,
Diffuse hepatic steatosis,
Excessive daytime somnolence,
Exercise intolerance,
Exertional dyspnea,
Failure to thrive,
Fatigable weakness of swallowing muscles,
Gait disturbance,
Generalized hypotonia,
Generalized muscle weakness,
Global developmental delay,
Glycosuria,
Hepatomegaly,
High palate,
Hyperphosphaturia,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Increased hepatocellular lipid droplets,
Increased intramyocellular lipid droplets,
Intellectual disability,
Lactic acidosis,
Leukoencephalopathy,
Motor delay,
Optic atrophy,
Pigmentary retinopathy,
Progressive leukoencephalopathy,
Progressive peripheral neuropathy,
Proteinuria,
Ptosis,
Renal Fanconi syndrome,
Renal tubular dysfunction,
Respiratory distress,
Respiratory insufficiency due to muscle weakness,
Seizure,
Sensorineural hearing impairment,
Skeletal muscle steatosis,
Spastic tetraparesis,
Vomiting,
Weakness of facial musculature
[+]
|
|
Mouse (5 sources):
abnormal respiratory electron transport chain,
decreased exploration in new environment,
decreased locomotor activity,
impaired exercise endurance,
muscle phenotype
|
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.