Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants.

The candidate genes for kidney disorders include FBLN1, WNT7B, UPK3A, CELSR1, and PLXNB2. This study demonstrates the utility of patient registries for uncovering genetic contributions to rare diseases. Future work should focus on functional studies for these genes to assess their potential pathogenic contribution to the different subsets of kidney disorders. A higher resolution version of the Graphical abstract is available as Supplementary information.