Amish, Mennonite, and Hutterite
Genetic Disorder Database

Oculorenocerebellar syndrome

Disorder
OMIM #: %257970  (Click to access OMIM database)
Disorder: Oculorenocerebellar syndrome 
Also known as: ORC syndrome 
Clinical
Phenotype: worsening spastic diplegia, choreoathetosis, glomerulopathy, progressive tapetoretinal degeneration, loss of retinal vessels, developmental delay/mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
Unknown
Last updated: 2008-08-27 

References
Hunter AG, Jurenka S, Thompson D, Evans JA. (1982) Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome. Am. J. Med. Genet 11: 383-395.
PubMed ID: 7091183 
Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. (2008) Unique disease heritage of the Dutch-German Mennonite population.. Am J Med Genet A 146A(8):1072-87.
PubMed ID: 18348259 

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