Salt and Pepper Developmental Regression Syndrome

Preferred Label : Salt and Pepper Developmental Regression Syndrome;

NCIt synonyms : GM3 Synthase Deficiency; SPDRS;

NCIt 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.;

Details

Origin ID

C206525;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

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