Patient 2 had ASD with mild IDD, patent ductus arteriosus, hypotonia, and congenital hearing loss and a de novo PTV in CHD7 (ASD, CHARGE syndrome, MIM: 214800)73 (NM_017780:c.6270G>A:p.[(Trp2090*]). Here, CHD7 is linked to intervertebral disk degenerative disorder.