C18orf32

Families

Glycosylphosphatidylinositol biosynthesis defect 25 (GPIBD25) is a rare genetic disorder that generally affects the development and function of the brain. It includes other symptoms such as hypotonia and stiff joints due to shortening of tendons and/or muscles. It is transmitted in an autosomal recessive manner which means that both copies of the gene, each copy inherited from an unaffected parent, must carry the mutation for the disease to occur.