The first group that affects the transcription function of MyRF is located in the DBD domain, such as the mutations F387S and G435R, resulting in congenital diaphragmatic hernia 14; the mutation Q403R, resulting in MYRF-related mild encephalopathy with reversible myelin vacuolization (MMERV) 26; and the mutation Q443P, resulting in disorders of sex development (DSDs) 27. Here, MYRF is linked to Genetic 46,XY disorder of sex development.