GPAA1

Professionals

Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) is a type of inherited glycosylphosphatidylinositol deficiency disorders (IGDs), a subgroup of congenital disorders of glycosylation. Only few cases have been reported and were characterized by early-onset seizures, hypotonia, global developmental delay, osteopenia, and cerebellar atrophy. It is transmitted in an autosomal recessive manner.