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Disease: Spinocerebellar degeneration corneal dystrophy

  • A family of SCA1 with pigmentary macular dystrophy
  • Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome
  • Familial spinocerebellar degeneration with corneal dystrophy
  • Spinocerebellar ataxia type 7 presenting as Stargardt's disease
  • Spinocerebellar degeneration-corneal dystrophy
  • Variable clinical manifestations of familial amyloid polyneuropathy and living related liver transplantation
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About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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