The three genes are AMN(phenotype: Imerslund-Grasbeck syndrome 2; IGS2 OMIM: 618,882), CDC42BPB(phenotype: Chilton-Okur-Chung neurodevelopmental syndrome; CHOCNS OMIM: 619,841) and TRAF3(phenotype: encephalopathy, acute, infection-induced(herpes-specific); ILAE5 OMIM: 614,849), only AMN gene is completely deleted, while others are partial deleted, which are not reported in the ClinVar database. Here, CDC42BPB is linked to Imerslund-Grasbeck syndrome type 2.