In contrast, individuals with BS can be differentiated by the presence of microcephaly, immunodeficiency, and type 2 diabetes, whereas patients with a RECQL4-associated disorder can be identified by absent or hypoplastic thumbs, radial ray defects, absent or hypoplastic patellae, limb malformations, cataracts, reduced bone density, anemia, neutropenia, and craniosynostosis. Here, RECQL4 is linked to microcephaly.