complex cortical dysplasia with other brain malformations 14A

A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that h

A complex cortical dysplasia with other brain malformations that is characterized by a global developmental delay with impaired intellectual development, motor delay, poor speech development, and early-onset seizures, often focal or atypical absence and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21.

Signs and symptoms

• Hypertonia
• Truncal ataxia
• Dysmetria
• Global developmental delay
• Hypoplasia of the pons
• Perisylvian polymicrogyria
• Ventriculomegaly
• Esotropia
• Intellectual disability
• Frontal polymicrogyria

Also known as: CDCBM14A; bilateral frontoparietal polymicrogyria