eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | spinocerebellar ataxia 5 |
| Comorbidity | C0007758|cerebellar ataxia |
| Sentences | 1 |
| PubMedID- 23236289 | We identified a homozygous mutation in sptbn2, which causes a more severe disorder than sca5, with a developmental cerebellar ataxia, which is present from childhood; in addition there is marked cognitive impairment. |
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