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, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| Unknown | |
| Last updated: | 2022-11-11 |
| 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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