The phenotypes and familial (segregation) results were partly consistent with Cohen syndrome [OMIM: 216550] with a recessive inheritance pattern, but two VUS (c.10333G>A (p.V3445M) and c.10718C>T (p.T3573I) in VPS13B gene) are both predicted consistently as un‐damaging (Tolerated for SIFT§ and Benign for PolyPhen_2§). Here, VPS13B is linked to Cohen syndrome.