congenital disorder of glycosylation type IIy

A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22

A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22.

Signs and symptoms

• Narrow forehead
• Bilateral tonic-clonic seizure
• Delayed CNS myelination
• Cerebral cortical atrophy
• Hypotonia
• Agenesis of corpus callosum
• Type II transferrin isoform profile
• Thin corpus callosum
• Sensorimotor neuropathy
• Hip subluxation