Shortly afterwards, further de novo variants in MYRF have been identified as the genetic cause of congenital diaphragmatic hernia (CDH) in patients that also presented congenital heart disease (CHD); three of the patients also had varying genital anomalies ranging from female external genitalia with a blind ending vagina to ambiguous genitalia and/or undescended testes, extending the spectrum of CUGS [4]. Here, MYRF is linked to congenital diaphragmatic hernia.