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Details of SCP2 gene in Homo sapiens
Disease |
Disease |
OMIM id |
Leukoencephalopathy, with dystonia and motor neuropathy (LDMN) [MIM:613724]: A syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613724 |
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
Scp2 | | daf-22 | Sp-Scp2 |