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). Here, DHX37 is linked to neurodevelopmental disorder.