PIGT-CDG, an autosomal recessive syndromic intellectual disability disorder of
glycosylphosphatidylinositol (GPI) anchors, was recently described in two independent
kindreds [Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (OMIM,#
615398)]. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, a subunit of the
heteropentameric transamidase complex that facilitates the transfer of GPI to proteins. GPI
facilitates attachment (anchoring) of proteins to cell membranes. We describe, at ages 7 and …