Zespół całościowego zaburzenia rozwoju, wad neuro-ocznych, drgawek oraz niepełnosprawności intelektualnej

A rare genetic neurological disorder characterized by infantile to childhood onset of global developmental delay, hypotonia, seizures, growth delay, and intellectual disability. Additional variable features include strabismus, cortical visual impairment, nystagmus, movement disorder (such as dystonia, ataxia, or chorea), or mild dysmorphic features, among others.