Search Result

Top
1 to 1 of 1
Entry Name Description Category Pathway Gene
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]
1 to 1 of 1

[ KEGG | DISEASE | DRUG | MEDICUS ]