OBSL1 and 3M syndrome: Exome sequencing of a premortem blood sample identified the presence of a homozygous DCLRE1C variant [c.194C > T; p.T65I (NM_001033855)] and a novel homozygous pathogenic variant in OBSL1, a gene associated with 3M syndrome [c.3922C > T; p.R1308X (NM_001173431)] (Supplementary Figure).