Clinical Exome Sequencing in Patients with Undifferentiated General Developmental Delay and Intellectual Disabilities

Introduction. Each fifth neurodevelopmental disorder is diagnosed in massively parallel sequencing only.
 Objective: to present the experience of exome children with undifferentiated general developmental delay and intellectual disabilities.
 Materials methods. We assessed 33 patients (19 males 14 females) at age 4.5 2.4 years disabilities. studied patients' medical family histories their neurological statuses as well findings neuropsychological testing clinical sequencing.
 Results.The effectiveness sample was 39.4% (MECP2, WDR45, SYNJ1, ADAR, PMM2, SHANK3, KMT5B, UBE3A, PTPN11, CTNNB1, MTOR mutations). The pathogenic variants were significantly more prevalent motor development delay, 53.8% (P .05). Most incident conditions included insomnias (46.2%), autism spectrum disorders (38.5%), regression epilepsy (38.5%). Genetic common female .
 Conclusion. With study results, we can suppose that ca. 40% disabilities had genetic and, therefore, needed further evaluation molecular testing.