KLHL17 and Intellectual disability: ,3 Previously, we identified a novel de novo variant in KLHL17 (c.701C > T; p. P234L) in a cohort of 225 Chinese children with developmental delay/intellectual disability based on whole-exome sequencing (1/225), the mutation located in the BACK domain, a very high conversed region (Fig. S1B), and the affected boy presented with developmental delay, intellectual disability, hypotonia, and abnormal brainstem auditory evoked potential signal.4