Whole exome sequencing identified four significant pathogenic variants: a homozygous HBB mutation (c.20A > T) consistent with SCD; a heterozygous COL3A1 mutation diagnostic of vascular EDS (type IV); a homozygous RSPH9 mutation confirming primary ciliary dyskinesia (PCD); and a heterozygous pathogenic SHANK3 variant, establishing the diagnosis of Phelan–McDermid syndrome (PMS). This evidence concerns the gene COL3A1 and primary ciliary dyskinesia.