PedAM
Pediatric Disease Annotations & Medicines
| Disease | usher syndrome |
| Phenotype | C0035334|retinitis pigmentosa |
| Sentences | 3 |
| PubMedID- 26029727 | For example, symptoms of usher syndrome include retinitis pigmentosa in conjunction with sensorineural deafness, whereas symptoms of senior–loken syndrome (a ciliopathy) include lca, nephronophthisis, cerebellar ataxia, and skeletal abnormalities. |
| PubMedID- 25649381 | All 25 had a retinal phenotype consistent with retinitis pigmentosa; 11 of these had usher syndrome type ii and the remaining 14 reported no hearing complaint in childhood (table 2). |
| PubMedID- 26011067 | Since the retinitis pigmentosa associated with usher syndrome type 1 is usually evident within the first decade, we tentatively deemed that the associated hearing loss was non-syndromic. |
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