Amish Infantile Epilepsy Syndrome

About the Disease
Salt and Pepper Developmental Regression Syndrome, also known as gm3 synthase deficiency, is related to salt and pepper syndrome and epilepsy, and has symptoms including vomiting and unspecified visual loss. An important gene associated with Salt and Pepper Developmental Regression Syndrome is ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5). Affiliated tissues include skin, brain and eye, and related phenotypes are hearing impairment and microcephaly

Common Targets
ST3GAL5

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