autosomal dominant disease syndromic disease neurodevelopmental disorder with macrocephaly and with or without seizures paola neurodevelopmental disorder with macrocephaly and seizures An autosomal dominant neurodevelopmental disorder characterized by impaired intellectual development, developmental delay of varying severity, impaired motor skills and language delay. Additional clinical features include macrocephaly, obesity, overgrowth, craniofacial dysmorphism, epilepsy, and variable behavioral manifestations including autism and attention deficit hyperactivity disorder. OMIM:618725