eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | neuropathy, peripheral |
| Symptom | C1384666|hearing loss |
| Sentences | 2 |
| PubMedID- 24285972 | Conclusions: a novel mutation of prps1 was identified in a cmtx5 family in which the proband had a phenotype of peripheral neuropathy with early-onset hearing loss, but no optic atrophy. |
| PubMedID- 20190489 | Auditory brainstem response was normal, suggesting that the patient had developed hearing loss due to peripheral neuropathy. |
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