Congenital Disorder of Glycosylation, Type Iiq (CDG2Q)

Congenital Disorder of Glycosylation, Type Iiq, also known as cdg iiq, is related to hyperphosphatasia with impaired intellectual development syndrome and hyperphosphatasia-intellectual disability syndrome. An important gene associated with Congenital Disorder of Glycosylation, Type Iiq is COG2 (Component Of Oligomeric Golgi Complex 2), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include liver and brain, and related phenotypes are intellectual disability and abnormal facial shape