Finally, in two patients (#10 and #11), we defined a genetic diagnosis of heterozygous APOB‐related Familial Hypobetalipoproteinemia (FHBL) due to the presence of heterozygous pathogenic/likely pathogenic variants in APOB gene (NM_000384.3: p.S2429X and c.3696 + 2 T>G, respectively). Here, APOB is linked to hypobetalipoproteinemia.