Salt and Pepper Developmental Regression Syndrome (SPDRS)

Alias:

Gm3 Synthase Deficiency

Amish Infantile Epilepsy Syndrome

St3gal5-Cdg

Epilepsy Syndrome, Infantile-Onset Symptomatic

Spdrs

Salt Pepper Developmental Regression Syndrome

Infantile-Onset Symptomatic Epilepsy Syndrome

Epilepsy Syndrome Infantile-Onset Symptomatic

Salt and Pepper Mental Retardation Syndrome

Ganglioside Gm3 Synthase Deficiency

St3gal5 Deficiency

Aies

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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 and brain, and related phenotypes are hearing impairment and microcephaly

Related ID：

MALACARDS：SLT014

OMIM：609056

MESH：D004827