periventricular nodular heterotopia 8

A periventricular nodular heterotopia characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development that has_material_basis_in heterozygous mutation in the ARF1 gene on chromosome 1q42.

Signs and symptoms

• Global developmental delay
• Seizure
• Periventricular nodular heterotopia
• Delayed speech and language development
• Delayed CNS myelination
• Reduced cerebral white matter volume
• Spasticity
• Cerebellar vermis atrophy