eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | perrault syndrome |
| Comorbidity | C0004134|ataxia |
| Sentences | 1 |
| PubMedID- 24098143 | This cnv contains 10 genes including hsd17b4, mutations of which cause perrault syndrome with ataxia indicative of cerebellar involvement [41]. |
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