congenital disorder of glycosylation type IIq

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.

Signs and symptoms

• Spastic tetraplegia
• Decreased circulating ceruloplasmin concentration
• Hypoplasia of the corpus callosum
• Global developmental delay
• Generalized tonic seizure
• Secondary microcephaly
• Small pituitary gland
• Decreased circulating copper concentration
• Abnormal glycosylation
• Diffuse cerebral atrophy

Also known as: CDG IIq; CDG2Q; CDGIIq; COG2-CDG; COG2-related congenital disorder of glycosylation