INTS1 and Global developmental delay: In this paper, we report on a 9-year-old female proband carrying two novel compound heterozygous missense variants in INTS1 (c.1145G>A, p.Arg382Gln; c.1195G>A, p.Gly399Ser) and presenting with developmental delay, multiple congenital anomalies, and distinctive craniofacial dysmorphic features.