congenital disorder of deglycosylation 2

A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and

A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24.

Signs and symptoms

• Motor delay
• Delayed speech and language development
• Micrognathia
• Cerebellar vermis hypoplasia
• Intellectual disability
• Reduced social responsiveness
• Ventriculomegaly
• Partial agenesis of the corpus callosum
• Polymicrogyria
• High forehead