eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cone rod dystrophy |
| Symptom | C1384666|hearing loss |
| Sentences | 4 |
| PubMedID- 21804060 | Background: usher syndrome (ush) is a group of autosomal recessive diseases characterized by the association of retinitis pigmentosa with sensorineural hearing loss. |
| PubMedID- 23251578 | Exome sequencing identifies a founder frameshift mutation in an alternative exon of ush1c as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. |
| PubMedID- 21487335 | Conclusion: we report a novel molecular cause of sector retinitis pigmentosa associated with hearing loss representing a new phenotype associated with mutations in the ush1c gene. |
| PubMedID- 24618850 | Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack of vestibular responses, and retinitis pigmentosa that appears in prepuberty. |
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