Figure 4.

Schematic distribution of the documented WDR45 variants causing RLS, ID, EOEE, DEE and West syndrome, and that have not been associated to a specific disease. Disorder caused by the indicated variants are in between brackets, in italic. Thirty variants in WDR45 cause disorder other than BPAN with twenty-two female and eight male patients. The diagnosis is not conclusive in 18 cases; therefore, annotated as “unclassified”