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PedAM

Pediatric Disease Annotations & Medicines




Disease usher syndrome
Symptom C0035334|retinitis pigmentosa
Sentences 3
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.
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- 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.

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