KLHL4 and Intellectual disability: The maternally inherited hemizygous missense variant in KLHL4 (NM_019117.4: c.859 A > G [p.(Ile287Val)] that we identified in our exome sequencing screen is present in a male proband, exhibiting severe intellectual disability and multiple congenital anomalies, including brain malformations (for a more detailed patient description refer to Supplementary Note 2).