Moreover, the patients with heterozygous missense mutation SETD2 c.5218C>T p.(R1740W) exhibit profound intellectual disability, microcephaly, congenital anomalies affecting several organ systems (Rabin et al., 2020), which are significantly different from the symptoms of Luscan-Lumish syndrome and are diagnosed as Rabin-Pappas syndrome (RAPAS, MIM#620155). Here, SETD2 is linked to Luscan-Lumish syndrome.