congenital disorder of glycosylation type IIo

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1.

Signs and symptoms

• Abnormal glycosylation
• Elevated circulating hepatic transaminase concentration
• Elevated alkaline phosphatase of bone origin
• Decreased circulating ceruloplasmin concentration
• Hypercholesterolemia
• Elevated circulating LDL-C concentration
• Generalized hypotonia
• Global developmental delay
• Hepatosplenomegaly
• Copper accumulation in liver

Also known as: CCDC115-CDG; CDG IIo; CDG syndrome type IIo; CDG2O; CDGIIo