congenital disorder of glycosylation Il

A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.

Signs and symptoms

• Delayed CNS myelination
• Seizure
• Hypotonia
• Hypoalbuminemia
• Reduced factor XI activity
• Type I transferrin isoform profile
• Global developmental delay
• Reduced antithrombin III activity
• Esotropia
• Cerebellar atrophy

Also known as: congenital disorder of glycosylation 1l