Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) is a type of inherited glycosylphosphatidylinositol deficiency disorders (IGDs), a subgroup of congenital disorders of glycosylation. It is characterized by global developmental delay, seizures, behavioural difficulties and hypotonia. It is transmitted in an autosomal recessive manner.
PIGH