congenital disorder of glycosylation type IIh

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1.

Signs and symptoms

• Lethargy
• Poor head control
• Elevated circulating creatine kinase activity
• Hypotonia
• Ataxia
• Type II transferrin isoform profile
• Atrophy/Degeneration affecting the brainstem
• Agenesis of cerebellar vermis
• Intellectual disability
• Elevated circulating aspartate aminotransferase concentration

Also known as: CDG IIh; CDG2H; CDGIIh; COG8-CDG; Carbohydrate deficient glycoprotein syndrome type IIh