Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN)
http://www.orpha.net/data/patho/GB/uk-CCFDN.pdf
Marden Walker syndrome
http://www.orpha.net/data/patho/GB/uk-MardenWalker.pdf
Ataxia myoclonies macular degeneration
http://www.orpha.net/data/patho/GB/uk-ataxiamyoclonus.pdf
Cohen syndrome
http://www.orpha.net/data/patho/GB/uk-cohen.pdf
Familial Cold Urticaria (FCU)