Salt and Pepper Developmental Regression Syndrome (ST3GAL5)

Salt and pepper developmental regression syndrome (SPDRS), also known as GM3 synthase deficiency, is an autosomal recessive disorder caused by pathogenic variants in the gene ST3GAL5. Typical onset of this disorder is during infancy. Early symptoms include irritability, poor feeding, vomiting, and failure to thrive. This disorder is characterized by uncontrollable seizures, profoundly delayed psychomotor development or developmental regression, abnormal movements, and changes in skin coloring of the arms, legs, and face. Life expectancy may be reduced. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):