congenital disorder of glycosylation type IIb

A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1.

Signs and symptoms

• Seizure
• Reduced tissue mannosyl-oligosaccharide glucosidase activity
• Hepatomegaly
• Generalized hypotonia
• Short palpebral fissure
• High palate
• Retrognathia
• Demyelinating peripheral neuropathy
• Hand clenching
• Elevated circulating aspartate aminotransferase concentration

Also known as: CDG IIb; CDG2B; CDGIIb; glucosidase I deficiency