congenital disorder of glycosylation type IIe

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Narrow mouth
• Hypotonia
• Generalized hypotonia
• Type II transferrin isoform profile
• Retrognathia
• Jaundice
• Progressive microcephaly
• Elevated circulating aspartate aminotransferase concentration
• Hypoplasia of the corpus callosum

Also known as: CDG IIe; CDG syndrome type IIe; CDG2E; CDGIIe; COG7-CDG