Salt and Pepper Developmental Regression Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the ST3GAL5 gene, encoding lactosylceramide alpha-2,3-sialyltransferase. It is characterized by refractory and recurrent seizures with an onset in infancy and delayed psychomotor development and or developmental regression.

**Synonyms:** - GM3 Synthase Deficiency - SPDRS