PedAM
Pediatric Disease Annotations & Medicines
| Disease | skeletal dysplasia |
| Phenotype | C0031117|peripheral neuropathy |
| Sentences | 1 |
| PubMedID- 22791502 | Finally, a small number of patients have been identified in whom a trpv4 mutation results in a phenotype combining skeletal dysplasia with peripheral neuropathy. |
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