First, no pathogenic or suspected pathogenic variants consistent with the patient’s phenotype have been detected; second, the pathogenic evidence is insufficient, but it is consistent with the patient’s phenotype, and two possible variants of pathogenesis are not excluded: one is the VPS13B gene with an variant of c.5692G>A, p. Glu1898lys (nucleotide of coding region 5,692 changed from guanine to adenine, resulting in amino acid 1898 changed from glutamic acid to lysine); this is a missense variant, and the disease correlated is Cohen syndrome. This evidence concerns the gene VPS13B and Cohen syndrome.