congenital disorder of glycosylation type IIt

A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mut

A congenital disorder of glycosylation type II that is characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities and that has_material_basis_in homozygous mutation in the GALNT2 gene on chromosome 1q41.

Signs and symptoms

• Posteriorly rotated ears
• Abnormal protein O-linked glycosylation
• Low-set ears
• Seizure
• Severe intellectual disability
• Insomnia
• Decreased serum creatinine
• Autistic behavior
• Abnormal cerebral white matter morphology
• Reduced eye contact