Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-high Lactate Syndrome(LBSL) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | DARS2/55157 | aspartyl-tRNA synthetase 2, mitochondrial | 1q25.1 | Chr1, NC_000001.11 (173824673..173858546) |
33874 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities