Developmental and Epileptic Encephalopathy 80 (DEE80)

Developmental and Epileptic Encephalopathy 80, also known as glycosylphosphatidylinositol biosynthesis defect 20, is related to salt and pepper syndrome and deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 80 is PIGB (Phosphatidylinositol Glycan Anchor Biosynthesis Class B), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include tongue and brain, and related phenotypes are seizure and global developmental delay