Congenital Disorder of Glycosylation, Type Iih (CDG2H)

Congenital Disorder of Glycosylation, Type Iih, also known as congenital disorder of glycosylation type iih, is related to developmental and epileptic encephalopathy 36 and microcephaly. An important gene associated with Congenital Disorder of Glycosylation, Type Iih is COG8 (Component Of Oligomeric Golgi Complex 8), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include skeletal muscle and brain, and related phenotypes are intellectual disability and seizure