Decoding the Neurodevelopment and Seizure Puzzle: A Pediatric Case of DYRK1A Gene Mutation and Autosomal Dominant Mental Retardation Type 7.

Autosomal Dominant Mental Retardation Type 7 is a disorder caused by pathogenic variants in the gene. Clinical features associated with this gene mutation include focal dysmorphism, developmental delay, and epilepsy. In this report, we present a case of an 8-year-old boy with a gene mutation, whose clinical manifestations underscore the rarity and clinical challenges of this genetic condition.