Monarch Ortholog Phenotypes
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Human (62 sources):
Abnormal mitochondria in muscle tissue,
Abnormality of extrapyramidal motor function,
Acute necrotizing encephalopathy,
Ataxia,
Axial hypotonia,
Babinski sign,
Blindness,
Cerebellar atrophy,
Cerebral edema,
Choreoathetosis,
Coma,
Decreased activity of mitochondrial complex I,
Decreased activity of mitochondrial respiratory chain,
Delayed ability to walk,
Developmental regression,
Diabetes mellitus,
Dyskinesia,
Encephalopathy,
Exercise intolerance,
Failure to thrive,
Feeding difficulties,
Feeding difficulties in infancy,
Fetal distress,
Focal T2 hyperintense brainstem lesion,
Generalized hypotonia,
Generalized myoclonic seizure,
Global developmental delay,
Growth delay,
Hepatic failure,
Hepatomegaly,
Hyperreflexia,
Hypertrophic cardiomyopathy,
Hypoglycemia,
Hyporeflexia,
Hypotonia,
Increased CSF lactate,
Increased circulating lactate concentration,
Increased serum pyruvate,
Intrauterine growth retardation,
Lactic acidosis,
Lethargy,
Leukodystrophy,
Leukoencephalopathy,
Microcephaly,
Mitochondrial myopathy,
Muscle weakness,
Nystagmus,
Optic disc pallor,
Optic neuropathy,
Paroxysmal involuntary eye movements,
Poor eye contact,
Poor head control,
Progressive macrocephaly,
Proximal tubulopathy,
Ptosis,
Respiratory insufficiency,
Seizure,
Sensorineural hearing impairment,
Skeletal muscle atrophy,
Spasticity,
Strabismus,
Vomiting
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Mouse (17 sources):
Purkinje cell degeneration,
abnormal corticosterone level,
abnormal nucleotide metabolism,
abnormal sphingolipid level,
decreased basal metabolism,
decreased circulating bilirubin level,
decreased circulating iron level,
decreased energy expenditure,
decreased food intake,
decreased liver cholesterol level,
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View all ortholog results at Monarch
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