PedAM
Pediatric Disease Annotations & Medicines
| Disease | auditory neuropathy |
| Phenotype | C0023264|leigh syndrome |
| Sentences | 1 |
| PubMedID- 25807530 | Located in the predicted catalytic domain of the protein, missense mutation p.(val213phe) results in nshl (dfnb94) while compound heterozygous mutation (p.tyr323*; p.asn381ser) is leading to leigh syndrome with auditory neuropathy. |
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