A genotype-phenotype of heterozygous variants located within exon 15-25 of SMARCA2, which encodes the ATPase domain, have been recently reported that over 80% of these variants were de novo based on WES analyses of 80 cases in trios with Nicolaides-Baraitser syndrome that have been documented worldwide so far (92, 95, 97). The gene discussed is DNAH8; the disease is intellectual disability - sparse hair - brachydactyly.