| Home Page |
| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 7/09/2006 |
| Symbol | RPIA |
| Location | 2p11 |
| Name | ribose 5-phosphate isomerase deficiency |
| Corresponding gene | RPIA |
| Main clinical features | leukoencephalopathy and peripheral neuropathy |
| Genetic determination | |
| Function/system disorder | metabolism/carbohydrates |
| Type | disease |
| Gene product |
| Name | ribose 5-phosphate isomerase |