congenital disorder of glycosylation type IIz

A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in

A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23.

Signs and symptoms

• Poor head control
• Axial hypotonia
• Clonus
• Developmental regression
• Seizure
• Limb joint contracture
• Global developmental delay
• Type II transferrin isoform profile
• Thin corpus callosum
• Diffuse cerebellar atrophy