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ENLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (LBSL)
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Lbsl
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syndrome
Mitochondrial Aspartyl-Trna Synthetase Deficiency
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-Lactate Elevation Syndrome
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement-High Lactate Syn
Leukoencephalopathy, Brain Stem and Spinal Cord Involvement, Lactate Elevation
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Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation, also known as lbsl, is related to cone-rod dystrophy 2 and leukodystrophy, and has symptoms including ataxia, muscle spasticity and tremor. An important gene associated with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation is DARS2 (Aspartyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include spinal cord and brain, and related phenotypes are abnormality of the dorsal column of the spinal cord and dysarthria
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