Congenital Disorder of Glycosylation, Type Iu (CDG1U)

Congenital Disorder of Glycosylation, Type Iu, also known as congenital muscular dystrophy with intellectual disability and severe epilepsy, is related to developmental and epileptic encephalopathy 36 and muscular dystrophy-dystroglycanopathy. An important gene associated with Congenital Disorder of Glycosylation, Type Iu is DPM2 (Dolichyl-Phosphate Mannosyltransferase Subunit 2, Regulatory). Affiliated tissues include liver and brain, and related phenotypes are failure to thrive and scoliosis