RAI1 and Birt-Hogg-Dubé syndrome: The proband phenotype was analyzed for phenotypic similarity with 17 reported YUHAL cases and OMIM diseases associated with either RAI1 or PMP22. Three clusters were observed, one consisting of 12/17 YUHAL probands, the second of 5/17 of reported YUHAL probands and BAB3097, and the last one containing PMP22 associated neurological diseases (Additional file 1: Figure S7a).