There have been reports that homozygous, compound heterozygous, and de novo heterozygous missense variants in DHX37 are associated with neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (NEDBAVC; OMIM# 618731) with an apparent absence of DSD (Karaca et al., 2015; Paine et al., 2019). This evidence concerns the gene DHX37 and disorder of sexual differentiation.