congenital disorder of glycosylation type IId

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Elevated circulating aspartate aminotransferase concentration
• Myopathy
• Decreased muscle mass
• Hypotonia
• Global developmental delay
• Abnormal isoelectric focusing of serum transferrin
• Dandy-Walker malformation
• Hydrocephalus
• Macrocephaly

Also known as: CDG IId; CDG2D; CDGIId