December 2022

  GPC3 mutation/deletion and Simpson-Golbai-Behmel syndrome (SGBS). This syndrome is characterized by pre- and post- macrosomia and distinctive craniofacial features such as macrocephaly, coarse facial features, and palatal abnormalities. Mild-to-severe intellectual disability with or without structural brain anomalies are also commonly noted. Other variable findings include supernumerary nipples, diastasis recti,... Read More