C18orf32

Professionals

Glycosylphosphatidylinositol Biosynthesis Defect 25 (GPIBD25) 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 global developmental delay, hypotonia, and contractures. It is transmitted in an autosomal recessive manner.