Аңдатпа
Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant disorder with an unknown prevalence. It is recognized as a distinct clinical entity, although symptoms may vary. Key features include intellectual disability, unique facial characteristics such as sparse scalp hair, coarse facial features, a low frontal hairline, microcephaly, and seizures. This syndrome is typically inherited in an autosomal dominant pattern and is caused by de novo mutations in the SMARCA2 gene, primarily missense mutations. We present the case of a 12-year-old girl with NCBRS in Almaty, featuring a confirmed molecular diagnosis and a mild-to-moderate phenotype, contributing to the limited documentation of this syndrome in Central Asia.