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Entry | Name | Description | Category | Pathway | Gene |
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H02284 | Leukotriene C4 synthase deficiency | Leukotriene C4 (LTC4) synthase deficiency is an inborn error of metabolism linked to a fatal developmental syndrome. It is characterised by severe muscular hypotonia, psychomotor retardation, failure to ... | Inherited metabolic disorder | LTC4S [HSA:4056] [KO:K00807] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |