Spinocerebellar ataxia, autosomal recessive 8
| Disorder | |
|---|---|
| OMIM #: | #610743 (Click to access OMIM database) |
| Disorder: | Spinocerebellar ataxia, autosomal recessive 8 |
| Also known as: | ATAXIA, RECESSIVE, OF BEAUCE CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, TYPE 1 ARCA1 |
| Clinical | |
| Phenotype: | ataxia, dysarthria, kyphosis, scoliosis |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | SYNE1 |
| Base Change: | C>T, at nucleotide 17905 |
| Amino Acid Change: | |
| Last updated: | 2022-11-13 |
| References |
|---|
| Personal communication; seen at CSC. |
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