Home Contact Sitemap

eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease usher syndrome
Comorbidity C0035333|retinitis
Sentences 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.
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).

Page: 1