PedAM
Pediatric Disease Annotations & Medicines
| Disease | paraplegia |
| Phenotype | C0029124|optic atrophy |
| Sentences | 3 |
| PubMedID- 25024583 | [6] the overlap syndrome of erb's paraplegia with primary optic atrophy in ns has rarely been reported in literature. |
| PubMedID- 25519961 | Recently, we identified the causative gene, c12orf65, that was reported the gene for leigh syndrome, for autosomal recessive spastic paraplegia with optic atrophy and neuropathy (spg55). |
| PubMedID- 23188110 | A homozygous mutation of c12orf65 causes spastic paraplegia with optic atrophy and neuropathy (spg55). |
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