“…There are further series of case reports on RDs including Ellis-van Creveld Syndrome, Epidermolysis Bullosa, Fabry's disease, Fahr's disease, Hereditary Stomatocytosis, Holt-Oram Syndrome, Ollier's disease, different types of Porphyria, Rogers Syndrome, Wolfram syndrome, congenital anomalies, and many more from different regions of J&K (Bhat J. I. et al, 2010;Bhat Y. J. et al, 2010;Bhat et al, 2015;Qayoom et al, 2010;Ganie et al, 2011Ganie et al, , 2012Majid et al, 2012;Shoib et al, 2012;Hassan and Keen, 2013;Rasool et al, 2015;Wani et al, 2016;Kumar S. et al, 2017;Nazir and Chalkoo, 2017;Ilyas et al, 2019). Most of these are merely presented as case reports and the underpinning molecular etiology of many of the reported as well as unreported RDs cases from J&K have been due for years.…”