We report a case that involves a deletion of 3 Mb in chromosome 7q21.3 region including DYNC1I1 with preserved DLX5/6 without ectrodactyly accompanied by craniofacial dysmorphology, personality disorder, hearing loss, musculoskeletal manifestations, bilateral inguinal herniae, and mitral valve prolapse. Here, DLX5 is linked to mitral valve prolapse.