aars2 Phenotypes

Phenotypes

XB-GENEPAGE-6251327

Gene Symbol: aars2 Gene Name: alanyl-tRNA synthetase 2, mitochondrial

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (37 sources): Abnormal cerebral white matter morphology, Apraxia, Ataxia, Atypical behavior, Bradykinesia, Cerebellar atrophy, CNS demyelination, Dementia, Depression, Dysarthria, Dystonia, EEG abnormality, Failure to thrive, Frontal lobe dementia, Generalized muscle weakness, Gliosis, Hyperreflexia, Hypertrophic cardiomyopathy, Increased circulating lactate concentration, Lactic acidosis, Leukoencephalopathy, Loss of speech, Memory impairment, Mental deterioration, Mutism, Neurodegeneration, Neuronal loss in central nervous system, Nystagmus, Periventricular leukomalacia, Postural instability, Premature ovarian insufficiency, Progressive leukoencephalopathy, Pulmonary hypoplasia, Rigidity, Shuffling gait, Spasticity, Tremor [+]
Mouse (6 sources): abnormal vocalization, decreased embryo size, decreased red blood cell distribution width, embryonic lethality, complete penetrance, no abnormal phenotype detected, preweaning lethality, complete penetrance
View all ortholog results at Monarch