congenital disorder of glycosylation type IIi

A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3.

Signs and symptoms

• Delayed speech and language development
• Hypotonia
• Motor delay
• Intellectual disability
• Microcephaly
• Short stature
• Truncal ataxia
• Type II transferrin isoform profile
• Atrophy/Degeneration affecting the brainstem
• Neurogenic bladder

Also known as: CDG IIi; CDG syndrome type IIi; CDG2I; CDGIIi; COG5-CDG