PedAM
Pediatric Disease Annotations & Medicines
| Disease | leigh syndrome |
| Phenotype | C0029124|optic atrophy |
| Sentences | 2 |
| PubMedID- 21196529 | They suggest that the t14487c mtdna mutation should be analyzed in leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age. |
| PubMedID- 24412566 | Mtfmt deficiency leads to (relatively mild) leigh syndrome with or without optic atrophy (tucker et al., 2011; neeve et al., 2013). |
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