eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | arts syndrome |
| Comorbidity | C0029132|optic neuropathy |
| Sentences | 1 |
| PubMedID- 26089585 | Mild prs-i deficiency (dfnx-2) results in non-syndromic progressive hearing loss whereas moderate prs-i deficiency (cmtx5) and severe prs-i deficiency (arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment. |
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