PedAM
Pediatric Disease Annotations & Medicines
| Disease | charcot-marie-tooth disease |
| Phenotype | C0029124|optic atrophy |
| Sentences | 1 |
| PubMedID- 25258575 | charcot-marie-tooth disease (cmt) 2a with optic atrophy is referred to as hereditary motor and sensory neuropathy type vi (hmsn vi) and is caused by mitofusin 2 gene (mfn2) mutation. |
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