Furthermore, 6 VUS (3 inherited and 3 unknown) contained morbid OMIM genes, including NFIA, MPZ, PARK2, DPP6, and KANK1. Additionally, 3 other cases (2 females and 1 male) inherited large chromosome X duplications from carrier mothers spanning several morbid OMIM genes but with no evidence for triplosensitivity phenotypes as determined by the ClinGen Dosage Sensitive Map (http://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/) [45]. This evidence concerns the gene KANK1 and Birt-Hogg-Dubé syndrome.