Using this application, the top syndromes matched by both algorithms were SHMS (37/38); DEE66 (30/38); Verheij syndrome (VRJS, OMIM #615583) (26/38), caused by a gene deletion involving the PUF60 gene; neuro-oculo-cardio-genitourinary syndrome (NOCGUS, OMIM #618652) (23/38), caused by heterozygous variants in the WDR37 gene; and Baraitser–Winter syndrome 1 (BRWS1, OMIM #243310) (20/38), caused by alterations in the ACTB gene (Table 1). Here, ACTB is linked to Baraitser-Winter syndrome 1.